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100 genes
DNA Cardiovascular Health Test
Test type
Lab Test
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Saliva
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See allThe DNA Cardiovascular Health test provides clarity on how your genes affect the heart and blood vessels. This DNA test analyzes genes related to heart rate, recovery, and other factors important for cardiovascular health, offering you specific recommendations based on your results.
You can easily collect your saliva sample with the included test kit and send it to our lab. The price covers the return shipping. You’ll receive your detailed results digitally within 6-8 weeks.
Save more by bundling DNA tests. Order multiple tests together for better value from our wide range.
- In stock
- At-home test
- Results 6-8 weeks
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What is analyzed in the test?
Heart Rate
CALCRLCHRM2DSPFBXL17FHOD3FRMD4BGRINAMAP3K10MFFMICAL2MYH11MYH6PPIL1RASSF3RNF220SCN10ASLC35F1SOX5SYT10TRAPPC14
CALCRL (Calcitonin Receptor-Like): CALCRL, also known as the calcitonin receptor-like receptor, is an integral component of the calcitonin gene-related peptide (CGRP) receptor complex. It plays a pivotal role in cardiovascular physiology and the regulation of vasodilation, thereby contributing to blood pressure homeostasis.
CHRM2 (Cholinergic Receptor Muscarinic 2): CHRM2 is a member of the muscarinic cholinergic receptor family, which plays a crucial role in mediating the effects of acetylcholine in the central and peripheral nervous systems. This G protein-coupled receptor is involved in a variety of physiological functions, including modulation of heart rate, smooth muscle contraction, and cognitive processes. CHRM2's influence on cardiac function makes it a significant factor in cardiovascular regulation, where it contributes to the slowing of heart rate and reduction of cardiac contractility. Additionally, its role in the brain implicates it in memory, learning, and potentially in the pathophysiology of neurological disorders such as Alzheimer's disease. The regulation of CHRM2 activity is critical for its proper function in neurotransmission and signaling pathways, highlighting its importance as a potential therapeutic target for treating cardiovascular and neurological conditions influenced by cholinergic signaling.
DSP (Desmoplakin): Desmoplakin is a key cytoskeletal linker protein essential for the structural integrity and function of desmosomes, which are specialized cell-cell adhesion structures in epithelial and cardiac tissues. It plays a critical role in the mechanical coupling and signal transduction that underlie cellular cohesion and stability. By anchoring intermediate filaments to desmosomal cadherins, DSP ensures the mechanical integrity of tissues subjected to significant stress, such as the skin, heart, and certain mucosal surfaces. Mutations in the DSP gene can lead to a variety of genetic disorders, including cardiomyopathies and skin diseases, highlighting its crucial role in tissue architecture and health. DSP's involvement in cell adhesion and integrity makes it a potential biomarker and therapeutic target for diseases characterized by desmosomal dysfunction and related pathologies.
FBXL17 (F-Box and Leucine-Rich Repeat Protein 17): FBXL17 is a member of the F-box protein family, which are critical components of the SCF (SKP1-cullin-F-box) complex, responsible for the ubiquitination and subsequent proteasomal degradation of target proteins. Through its role in protein turnover, FBXL17 regulates various cellular processes including cell cycle progression, signal transduction, and transcription. Its specific function involves the recognition and binding of phosphorylated substrates via its F-box motif and leucine-rich repeats, targeting them for ubiquitination. The precise regulation of protein levels by FBXL17 is essential for maintaining cellular homeostasis and function. Dysregulation of FBXL17 activity has been linked to cancer development and progression, making it a potential target for cancer therapeutics. By influencing the stability of key proteins, FBXL17 plays a pivotal role in controlling cell fate decisions and orchestrating cellular responses to environmental cues.
FHOD3 (Formin Homology 2 Domain Containing 3): FHOD3 is a member of the formin family of proteins, which play a crucial role in the organization and regulation of the actin cytoskeleton. This protein is particularly significant in cardiac muscle and other tissues, where it facilitates the assembly of actin filaments, thereby influencing cell shape, adhesion, and motility. FHOD3's activity is pivotal during cell division, migration, and muscle contraction, contributing to the proper functioning of cardiovascular and skeletal systems. Its regulatory mechanisms involve the dynamic remodeling of the actin cytoskeleton, essential for heart development and function. Dysregulation of FHOD3 has been implicated in cardiovascular diseases, including hypertrophic cardiomyopathy and heart failure, underscoring its potential as a therapeutic target. The precise modulation of FHOD3 activity is vital for maintaining cellular and tissue architecture, mirroring its broader significance in health and disease.
FRMD4B (FERM Domain Containing 4B): FRMD4B is a member of the FERM domain-containing proteins, known for their role in mediating linkages between the cell membrane and the cytoskeleton. This protein plays a key role in cellular processes such as signal transduction, cell morphology, and migration by interacting with various transmembrane proteins and influencing their localization and function. FRMD4B's involvement is crucial in the development and maintenance of neuronal networks, as well as in the regulation of cell polarity and membrane organization. Its function is significant for proper neural development and may be implicated in neurological disorders. The dysregulation of FRMD4B has potential consequences for cell adhesion, communication, and migration, contributing to the pathology of diseases such as cancer and neurodegenerative conditions. Understanding FRMD4B's role offers insights into the complex mechanisms of cell structure and signaling, highlighting its importance in cellular integrity and potential as a target for therapeutic intervention in related disorders.
GRINA (Glia Derived Nexin): GRINA is a protein that is thought to play a critical role in the central nervous system, particularly in neuroprotection and the regulation of neuronal excitability. It is part of a larger complex involved in the modulation of NMDA (N-methyl-D-aspartate) receptors, which are essential for synaptic plasticity, memory formation, and learning. The function of GRINA is associated with its ability to influence the activity of these receptors, potentially affecting neurodevelopmental processes and neural response mechanisms. Dysregulation of GRINA has been linked to various neurological disorders, including Alzheimer's disease, epilepsy, and schizophrenia, suggesting its involvement in the pathological processes underlying these conditions. The modulation of GRINA and its interactions with NMDA receptors present a potential therapeutic avenue for managing diseases characterized by altered neuronal excitability and synaptic dysfunction. Understanding GRINA's role in neuroprotection and excitability regulation highlights its significance in maintaining neural health and exploring treatment strategies for neurodegenerative diseases and cognitive disorders.
MAP3K10 (Mitogen-Activated Protein Kinase Kinase Kinase 10): MAP3K10, also known as MLK2 (Mixed Lineage Kinase 2), is a member of the mitogen-activated protein kinase kinase kinase (MAP3K) family, which plays a pivotal role in signaling pathways that regulate cell proliferation, differentiation, and apoptosis. This kinase acts as an upstream activator of the MAP kinase (MAPK) signaling cascade, responding to extracellular signals and translating them into cellular responses. MAP3K10's involvement is crucial for the development and maintenance of various physiological processes, and its activity is linked to neuronal function, immune responses, and stress responses. Dysregulation of MAP3K10 has been implicated in several pathological conditions, including neurodegenerative diseases, inflammatory disorders, and cancer, highlighting its significance in both normal cellular functions and disease states. The precise modulation of MAP3K10 activity underscores its potential as a therapeutic target for treating diseases associated with aberrant MAPK signaling.
MFF (Mitochondrial Fission Factor): MFF plays a crucial role in mitochondrial dynamics, particularly in the process of mitochondrial fission, which is essential for mitochondrial distribution, quality control, and energy metabolism. By recruiting dynamin-related protein 1 (Drp1) to the mitochondrial outer membrane, MFF facilitates the division of mitochondria, a process vital for cell health, growth, and response to metabolic demands. Mitochondrial fission, mediated by MFF, is critical for mitochondrial turnover and the removal of damaged mitochondria, thereby contributing to cellular energy homeostasis and the prevention of apoptosis. Dysregulation of MFF function can lead to abnormal mitochondrial morphology and has been implicated in a variety of pathological conditions, including neurodegenerative diseases, cardiovascular diseases, and metabolic syndromes. The modulation of mitochondrial fission through MFF presents a potential therapeutic target for diseases associated with mitochondrial dysfunction, emphasizing the importance of MFF in cellular and organismal health.
MICAL2 (Molecule Interacting with CasL 2): MICAL2 is a member of the MICAL family of enzymes, which are known for their role in cytoskeletal dynamics through the oxidation of actin. This enzyme contributes to the regulation of actin filament disassembly, influencing cell shape, migration, and intracellular transport. MICAL2's function is crucial in various cellular processes, including neurite outgrowth, axon guidance, and the regulation of synaptic and vascular structures. By modulating the cytoskeleton, MICAL2 plays a key role in cell communication, differentiation, and movement. Dysregulation of MICAL2 has been linked to cancer progression, neurological disorders, and vascular diseases, highlighting its significance in health and disease. The precise control of actin dynamics by MICAL2 underscores its potential as a therapeutic target in disorders associated with abnormal cell movement and signaling.
MYH11 (Myosin Heavy Chain 11): MYH11 encodes a smooth muscle myosin heavy chain, a key component of the contractile apparatus in smooth muscle cells. This protein plays a pivotal role in the contraction and relaxation of smooth muscle fibers, which is fundamental to various physiological processes, including vascular regulation, gastrointestinal motility, and respiratory function. MYH11 is essential for maintaining the structural integrity and function of smooth muscle tissues across the body. Mutations or dysregulation in the MYH11 gene can lead to a range of vascular disorders, including thoracic aortic aneurysms and dissections, highlighting its critical role in vascular health. The specific expression of MYH11 in smooth muscle cells also makes it a valuable marker for the differentiation of these cells and for studying the pathogenesis of smooth muscle-related diseases. Understanding the regulation and function of MYH11 is crucial for developing therapeutic strategies targeting smooth muscle dysfunction in various diseases.
MYH6 (Myosin Heavy Chain 6): MYH6 is a gene that encodes the alpha heavy chain subunit of cardiac myosin, a motor protein found in the heart muscle. This protein plays a fundamental role in the contraction of the cardiac muscle, enabling the heart to pump blood efficiently throughout the body. The alpha heavy chain is particularly important for the atrial contraction, contributing to the initial filling phase of the ventricles. Mutations in MYH6 have been linked to various cardiac disorders, including atrial septal defects, cardiomyopathies, and heart rhythm abnormalities, underscoring its critical role in cardiac function and development. The proper functioning of MYH6 is essential for maintaining the heart's pumping efficiency and rhythm, highlighting its importance in cardiovascular health. Understanding the genetic and molecular mechanisms of MYH6 can lead to improved diagnostics and therapeutic strategies for heart diseases associated with its dysregulation.
PPIL1 (Peptidylprolyl Isomerase Like 1): PPIL1 is a member of the cyclophilin family of peptidylprolyl isomerases, enzymes that catalyze the cis-trans isomerization of proline imide bonds in polypeptides, thus facilitating protein folding and assembly. This enzymatic activity is crucial for various cellular processes, including signal transduction, transcriptional regulation, and cell cycle progression. PPIL1 is involved in the folding and function of proteins, contributing to the maintenance of cellular homeostasis and response to stress. It participates in several protein complexes and plays roles in the splicing of pre-mRNA, aiding in the precise regulation of gene expression. The involvement of PPIL1 in these fundamental processes underlines its importance in cellular physiology and its potential as a therapeutic target in diseases related to protein misfolding and dysfunction, such as neurodegenerative disorders. Additionally, its role in immune modulation and viral replication presents avenues for research in infectious diseases and immune therapies.
RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a member of the RASSF family of tumor suppressor proteins that play pivotal roles in cell cycle regulation, apoptosis, and cellular senescence. It functions as a key mediator of various signaling pathways, notably those involving the Ras proteins, which are critical for cell proliferation, differentiation, and survival. RASSF3's ability to interact with microtubules and other cellular structures further contributes to its involvement in the maintenance of genomic stability and the regulation of mitotic processes. The protein is implicated in the suppression of tumor growth and progression by inhibiting abnormal cell proliferation and inducing apoptosis in response to oncogenic signals. Loss of RASSF3 expression or its inactivation through genetic mutations can lead to uncontrolled cell growth and is associated with the development and progression of various cancers. Consequently, RASSF3 is considered a potential biomarker for cancer diagnosis and prognosis, as well as a target for therapeutic intervention in oncology.
RNF220 (Ring Finger Protein 220): RNF220 is a member of the ring finger protein family, characterized by its ring finger domain, which is implicated in mediating protein-protein interactions and ubiquitination processes. This enzyme plays a significant role in the ubiquitin-proteasome system, a critical pathway for protein degradation and turnover, which is essential for maintaining cellular homeostasis. Through its E3 ubiquitin ligase activity, RNF220 is involved in targeting specific substrates for degradation, thus regulating various cellular processes including signal transduction, transcriptional control, and the cell cycle. The dysregulation of RNF220 activity can contribute to pathological conditions, such as cancer, neurodegenerative diseases, and immune disorders, by affecting the stability and function of key regulatory proteins. Understanding the specific roles and mechanisms of RNF220 in ubiquitination highlights its potential as a therapeutic target in diseases associated with protein misfolding and degradation pathways.
SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10): SCN10A encodes a member of the voltage-gated sodium channel family, which is essential for the initiation and propagation of action potentials in neurons and other excitable cells. This particular channel is predominantly expressed in peripheral sensory neurons and plays a critical role in pain sensation, making it a key player in nociception. Alterations in SCN10A function or expression have been linked to a variety of pain disorders, including neuropathic pain and inherited erythromelalgia, a condition characterized by episodes of burning pain and redness in the extremities. The channel's involvement in cardiac electrophysiology has also been noted, with variations in SCN10A contributing to the risk of cardiac arrhythmias. As such, SCN10A represents a significant target for the development of analgesic drugs aimed at modulating pain pathways, as well as potential therapeutic interventions for cardiac rhythm abnormalities. Its role in pain and cardiac function underscores the importance of precise regulation of sodium channels in health and disease.
SLC35F1 (Solute Carrier Family 35 Member F1): SLC35F1 is a member of the solute carrier family, specifically involved in the transport of nucleotide sugars across cellular membranes. This protein plays a crucial role in the intracellular trafficking and availability of nucleotide sugars, which are essential substrates for glycosylation processes. Glycosylation is a critical post-translational modification that affects protein folding, stability, and interactions, thereby influencing various physiological and pathological processes, including cell signaling, immune response, and cancer progression. The precise function of SLC35F1 in glycosylation underscores its importance in maintaining cellular homeostasis and the proper function of glycoproteins. Dysregulation or mutations in the SLC35F1 gene can impact glycosylation patterns, potentially contributing to the development of diseases such as congenital disorders of glycosylation, making it a significant area of interest for therapeutic research and diagnostic applications.
SOX5 (SRY-Related HMG-Box Gene 5): SOX5 is a member of the SOX (SRY-related HMG-box) family of transcription factors, known for playing a pivotal role in the regulation of embryonic development and the determination of cell fate. It is involved in a wide range of biological processes, including the regulation of chondrogenesis, the development of the nervous system, and the differentiation of various cell types. SOX5 functions by binding to DNA and influencing the transcription of genes crucial for cell growth, development, and differentiation. Mutations or dysregulation of SOX5 have been implicated in diverse pathological conditions, such as developmental disorders and contributions to cancer progression. Its critical role in modulating gene expression patterns essential for development and its implication in disease states make SOX5 a significant subject of study for understanding developmental biology and potential therapeutic interventions.
SYT10 (Synaptotagmin X): SYT10, a member of the synaptotagmin family, is implicated in the regulation of neurotransmitter release and intracellular signaling pathways. Synaptotagmins are known for their critical role in synaptic vesicle trafficking and membrane fusion, with SYT10 specifically involved in calcium-dependent exocytosis in non-neuronal tissues. It acts as a calcium sensor, modulating the release of neuropeptides and hormones in response to intracellular calcium levels. The precise function of SYT10 in neurotransmission and its involvement in the modulation of synaptic plasticity underscore its potential relevance to neurological conditions and cognitive processes. Dysregulation of SYT10 expression has been associated with various neurological disorders, making it a potential target for therapeutic intervention to restore normal synaptic function and neuronal communication.
TRAPPC14 (Trafficking Protein Particle Complex 14): TRAPPC14 is a component of the TRAPP (Trafficking Protein Particle) complex, which plays a vital role in vesicular transport processes within cells. This protein is involved in the regulation of trafficking between various membranous organelles, including the endoplasmic reticulum, Golgi apparatus, and endosomes. TRAPPC14 functions as part of the machinery that ensures the precise delivery of cargo proteins and lipids across different cellular compartments, critical for maintaining cellular homeostasis and function. Its role is particularly important in the context of protein secretion, membrane biogenesis, and the maintenance of organelle integrity. Dysregulation or genetic mutations in TRAPPC14 can lead to cellular trafficking defects, contributing to a range of diseases, including neurodevelopmental disorders and metabolic syndromes. Research into TRAPPC14 and its interactions within the TRAPP complex offers insights into the mechanisms of vesicular transport and potential therapeutic targets for diseases resulting from trafficking abnormalities.
Heart Rate Variability
CAPSCCDC141GNG11NDUFA11NEO1PPIL1RBFOX1RGS6SOX5SYT10TGM2TFPI2TMPRSS4
CAPS (Calcium-Activated Protease Substrate): CAPS, known for its role as a substrate for calcium-activated proteases, plays a crucial part in cellular processes that are regulated by intracellular calcium levels. These processes include cell migration, division, and apoptosis, which are fundamental for tissue development and repair. CAPS is involved in the modulation of cytoskeletal dynamics and cell adhesion, mechanisms vital for the proper function and structural integrity of cells. The precise regulation of CAPS by calcium signaling underscores its importance in maintaining cellular homeostasis and responding to physiological and pathological stimuli. Dysregulation of CAPS can contribute to various disease states, including neurodegenerative disorders, cardiovascular diseases, and cancer, making it a potential target for therapeutic interventions aiming to restore normal cell function and prevent disease progression.
CCDC141 (Coiled-Coil Domain Containing 141): CCDC141, characterized by its coiled-coil domain, is a protein implicated in the organization and function of cilia and flagella. These cellular structures are critical for movement, fluid flow, and signaling pathways in various cell types. CCDC141 plays a significant role in the proper formation and maintenance of cilia, influencing cellular processes such as motility, sensory perception, and developmental signaling pathways. Disruptions or mutations in the CCDC141 gene have been linked to ciliopathies, which are a group of disorders arising from dysfunctional cilia, affecting the kidneys, eyes, nervous system, and other organs. The study of CCDC141 provides insights into the fundamental mechanisms of ciliary function and its impact on human health, underscoring the protein's importance in cellular architecture and signaling. The regulation of CCDC141 and its involvement in ciliogenesis and ciliary function highlight its potential as a target for therapeutic intervention in diseases related to ciliary dysfunction.
GNG11 (G Protein Subunit Gamma 11): GNG11 is a component of heterotrimeric G proteins, which play a pivotal role in intracellular signaling pathways initiated by G protein-coupled receptors (GPCRs). Specifically, GNG11 is a gamma subunit, involved in the modulation of signal transduction across cell membranes, affecting a wide range of physiological processes including sensory perception, immune responses, and cell growth. Its role is critical in the transmission of signals from the extracellular environment to the cell's interior, leading to cellular responses. The precise function of GNG11 involves its interaction with the beta subunit of the G protein to form a functional dimer, which then associates with alpha subunits in response to receptor activation. Dysregulation or mutations in GNG11 have been linked to various diseases, including cardiovascular disorders and cancer, underlining its importance in maintaining cellular homeostasis and signaling fidelity. GNG11's involvement in key signaling pathways makes it a potential target for therapeutic intervention in conditions where aberrant G protein signaling is implicated.
NDUFA11 (NADH:Ubiquinone Oxidoreductase Subunit A11): NDUFA11 is a component of the mitochondrial complex I, the largest and first enzyme complex in the mitochondrial electron transport chain (ETC), crucial for cellular energy production. It plays a vital role in the assembly, stability, and function of complex I, facilitating the transfer of electrons from NADH to ubiquinone, thereby contributing to the generation of the proton gradient used to produce ATP through oxidative phosphorylation. Given its essential role in cellular metabolism and energy production, dysfunctions or mutations in NDUFA11 can lead to mitochondrial diseases and contribute to a range of metabolic and degenerative disorders, including neuromuscular diseases and complex I deficiency syndromes. The importance of NDUFA11 in mitochondrial function underscores its potential as a target for therapeutic intervention in diseases arising from mitochondrial dysfunction.
NEO1 (Neogenin 1): Neogenin 1 is a critical cell surface receptor implicated in various cellular processes including cell adhesion, migration, and axon guidance. It belongs to the immunoglobulin superfamily and plays a pivotal role in the development of the nervous system and the regulation of apoptosis. NEO1 acts as a receptor for netrin-1 and other ligands, guiding axonal growth and neuronal migration essential for brain development. Additionally, it is involved in the maintenance of tissue homeostasis and vascular development. Mutations or dysregulation of NEO1 have been associated with a range of developmental disorders and diseases, including cancer progression and metastasis. Its versatile functions in cell signaling and tissue organization highlight its importance as a potential therapeutic target for interventions in neurodevelopmental disorders, cancer, and tissue repair processes.
PPIL1 (Peptidylprolyl Isomerase Like 1): PPIL1 is a member of the cyclophilin family of peptidylprolyl isomerases, enzymes that catalyze the cis-trans isomerization of proline imide bonds in polypeptides, thus facilitating protein folding and assembly. This enzymatic activity is crucial for various cellular processes, including signal transduction, transcriptional regulation, and cell cycle progression. PPIL1 is involved in the folding and function of proteins, contributing to the maintenance of cellular homeostasis and response to stress. It participates in several protein complexes and plays roles in the splicing of pre-mRNA, aiding in the precise regulation of gene expression. The involvement of PPIL1 in these fundamental processes underlines its importance in cellular physiology and its potential as a therapeutic target in diseases related to protein misfolding and dysfunction, such as neurodegenerative disorders. Additionally, its role in immune modulation and viral replication presents avenues for research in infectious diseases and immune therapies.
RBFOX1 (RNA Binding Fox-1 Homolog 1): RBFOX1 is a highly conserved RNA binding protein that plays a pivotal role in the regulation of alternative splicing, influencing the diversity and functionality of mRNA transcripts within the nervous system and skeletal muscle tissues. It targets a wide array of pre-mRNAs, modulating their splicing patterns to affect gene expression critical for neuronal development, synaptic function, and muscle cell differentiation. The specificity of RBFOX1 for its RNA targets is essential for the proper development and function of the central nervous system, with its dysregulation implicated in various neurological disorders, including epilepsy, autism spectrum disorders, and neurodegenerative diseases. Beyond its primary role in RNA splicing, RBFOX1 also contributes to other aspects of RNA metabolism, such as mRNA stability and translation, underscoring its multifaceted contribution to cellular and tissue homeostasis. The importance of RBFOX1 in maintaining neural and muscular health highlights its potential as a therapeutic target for treating related conditions.
RGS6 (Regulator of G Protein Signaling 6): RGS6 is a member of the RGS family, which plays a crucial role in regulating G protein-coupled receptor (GPCR) signaling pathways. By accelerating the GTPase activity of G protein α subunits, RGS6 effectively turns off GPCR signaling, serving as a critical modulator of signal transduction. This modulation is vital for a wide range of physiological processes including sensory perception, cardiovascular regulation, and central nervous system functions. RGS6's ability to finely tune GPCR signaling makes it a significant player in the control of cellular responses to external stimuli. Dysregulation of RGS6 activity has been implicated in various pathological conditions, such as cancer, cardiovascular diseases, and neurological disorders. Its role in these diverse signaling pathways highlights the potential of RGS6 as a therapeutic target for the development of drugs aimed at treating diseases associated with GPCR signaling abnormalities.
SOX5 (SRY-Related HMG-Box Gene 5): SOX5 is a member of the SOX (SRY-related HMG-box) family of transcription factors, known for playing a pivotal role in the regulation of embryonic development and the determination of cell fate. It is involved in a wide range of biological processes, including the regulation of chondrogenesis, the development of the nervous system, and the differentiation of various cell types. SOX5 functions by binding to DNA and influencing the transcription of genes crucial for cell growth, development, and differentiation. Mutations or dysregulation of SOX5 have been implicated in diverse pathological conditions, such as developmental disorders and contributions to cancer progression. Its critical role in modulating gene expression patterns essential for development and its implication in disease states make SOX5 a significant subject of study for understanding developmental biology and potential therapeutic interventions.
SYT10 (Synaptotagmin X): SYT10, a member of the synaptotagmin family, is implicated in the regulation of neurotransmitter release and intracellular signaling pathways. Synaptotagmins are known for their critical role in synaptic vesicle trafficking and membrane fusion, with SYT10 specifically involved in calcium-dependent exocytosis in non-neuronal tissues. It acts as a calcium sensor, modulating the release of neuropeptides and hormones in response to intracellular calcium levels. The precise function of SYT10 in neurotransmission and its involvement in the modulation of synaptic plasticity underscore its potential relevance to neurological conditions and cognitive processes. Dysregulation of SYT10 expression has been associated with various neurological disorders, making it a potential target for therapeutic intervention to restore normal synaptic function and neuronal communication.
TGM2 (Transglutaminase 2): Transglutaminase 2, a multifunctional enzyme, plays a pivotal role in post-translational modification of proteins through its ability to catalyze the cross-linking of glutamine and lysine residues. This enzyme is involved in a diverse range of cellular processes, including apoptosis, cell differentiation, and tissue repair, by facilitating the stabilization and restructuring of the extracellular matrix. TGM2's activity is crucial in the pathophysiology of several diseases, such as neurodegenerative disorders, fibrotic diseases, and certain forms of cancer, where its dysregulation contributes to disease progression. The enzyme's involvement in the immune response, particularly in the context of celiac disease, where it deamidates gluten peptides leading to an autoimmune response, underscores its significance in both health and disease. Given its wide-ranging roles in cellular function and disease mechanisms, TGM2 represents a potential therapeutic target for addressing disorders associated with its aberrant activity.
TFPI2 (Tissue Factor Pathway Inhibitor 2): TFPI2, a critical component of the coagulation cascade, acts as a potent inhibitor of the tissue factor (TF)-mediated blood coagulation pathway. It plays a significant role in maintaining hemostatic balance by preventing excessive thrombosis and modulating fibrinolysis. Located in the extracellular matrix (ECM), TFPI2 is involved in various physiological processes beyond coagulation, including cell migration, proliferation, and angiogenesis, contributing to tissue repair and remodeling. The aberrant expression of TFPI2 has been associated with numerous pathological conditions, including cancer, where it may act as a tumor suppressor gene. Its downregulation in certain cancers has been linked to increased tumor growth, invasion, and metastasis, suggesting its role in tumor suppression and its potential as a biomarker for cancer diagnosis and prognosis. The regulation of TFPI2 activity is considered a promising therapeutic target in coagulation disorders, cancer, and other diseases where its pathophysiological roles are significant.
TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, known for its role in processing various proteins involved in physiological and pathological processes. This enzyme is localized on the cell surface, where it participates in the activation of proteins by cleaving peptide bonds. TMPRSS4 has been implicated in several critical biological pathways, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is pivotal in development, wound healing, and cancer metastasis. Its overexpression is associated with the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis, as well as a promising target for therapeutic intervention. By modulating cellular processes such as adhesion, invasion, and proliferation, TMPRSS4 plays a significant role in tumor biology and represents a link between proteolytic activity and cancer pathogenesis.
Heart Rate Recovery
CAV1C19ORF12CHRM2GIGYF1GNG11GRIK2INPPL1NEGR1PAX2PRDM6RGS6RNF220SERINC2SOX5SYT10TFPI2
CAV1 (Caveolin-1): Caveolin-1 serves as a principal component of caveolae, small invaginations of the plasma membrane found in many vertebrate cell types. It is crucial for various cellular processes, including signal transduction, lipid metabolism, and endocytosis. CAV1 plays a significant role in modulating cellular signaling pathways by acting as a scaffolding protein that regulates the activity of numerous signaling molecules. Its involvement extends to the regulation of endothelial nitric oxide synthase (eNOS), which is essential for vascular tone and blood flow. Mutations and dysregulation of CAV1 expression have been linked to a variety of pathological conditions, including cancer, cardiovascular diseases, and pulmonary disorders. The multifaceted roles of CAV1 in cell signaling, membrane dynamics, and disease pathogenesis underscore its importance in cellular physiology and its potential as a target for therapeutic intervention.
C19ORF12 (Chromosome 19 Open Reading Frame 12): C19ORF12, located on chromosome 19, encodes a protein of currently unclear function but is implicated in mitochondrial integrity and metabolism. Its significance has been underscored by its association with neurodegeneration with brain iron accumulation (NBIA), specifically mitochondrial membrane protein-associated neurodegeneration (MPAN). This protein is thought to play a role in the maintenance of mitochondrial function, possibly through involvement in lipid metabolism or the protection of mitochondrial membranes from oxidative stress. Mutations in the C19ORF12 gene have been linked to progressive neurological symptoms, including motor dysfunction, cognitive decline, and iron accumulation in the brain. The precise mechanisms by which C19ORF12 contributes to mitochondrial homeostasis and neuroprotection remain an active area of research, with implications for understanding and treating mitochondrial and neurodegenerative disorders.
CHRM2 (Cholinergic Receptor Muscarinic 2): CHRM2 is a member of the muscarinic cholinergic receptor family, which plays a crucial role in mediating the effects of acetylcholine in the central and peripheral nervous systems. This G protein-coupled receptor is involved in a variety of physiological functions, including modulation of heart rate, smooth muscle contraction, and cognitive processes. CHRM2's influence on cardiac function makes it a significant factor in cardiovascular regulation, where it contributes to the slowing of heart rate and reduction of cardiac contractility. Additionally, its role in the brain implicates it in memory, learning, and potentially in the pathophysiology of neurological disorders such as Alzheimer's disease. The regulation of CHRM2 activity is critical for its proper function in neurotransmission and signaling pathways, highlighting its importance as a potential therapeutic target for treating cardiovascular and neurological conditions influenced by cholinergic signaling.
GIGYF1 (GRB10 Interacting GYF Protein 1): GIGYF1 is a critical adaptor protein involved in mediating cellular signaling pathways, particularly those associated with insulin receptor and IGF-1 receptor signaling. It interacts with the GRB10 protein, playing a pivotal role in the regulation of cell growth, differentiation, and metabolism. Through its involvement in these pathways, GIGYF1 contributes to the fine-tuning of insulin sensitivity and glucose homeostasis, implicating it in metabolic regulation and the pathophysiology of diabetes. Moreover, GIGYF1 has been linked to the regulation of mRNA translation and stability, underscoring its role in controlling gene expression at the post-transcriptional level. Dysregulation of GIGYF1 activity has been associated with various metabolic disorders, highlighting its potential as a therapeutic target for the treatment of diabetes and related metabolic diseases. The complexity of GIGYF1's interactions and functions emphasizes its significance in cellular physiology and disease.
GNG11 (G Protein Subunit Gamma 11): GNG11 is a component of heterotrimeric G proteins, which play a pivotal role in intracellular signaling pathways initiated by G protein-coupled receptors (GPCRs). Specifically, GNG11 is a gamma subunit, involved in the modulation of signal transduction across cell membranes, affecting a wide range of physiological processes including sensory perception, immune responses, and cell growth. Its role is critical in the transmission of signals from the extracellular environment to the cell's interior, leading to cellular responses. The precise function of GNG11 involves its interaction with the beta subunit of the G protein to form a functional dimer, which then associates with alpha subunits in response to receptor activation. Dysregulation or mutations in GNG11 have been linked to various diseases, including cardiovascular disorders and cancer, underlining its importance in maintaining cellular homeostasis and signaling fidelity. GNG11's involvement in key signaling pathways makes it a potential target for therapeutic intervention in conditions where aberrant G protein signaling is implicated.
GRIK2 (Glutamate Ionotropic Receptor Kainate Type Subunit 2): GRIK2 is a critical subunit of the kainate receptors, which are glutamate-gated ion channels involved in excitatory neurotransmission in the central nervous system. These receptors play a pivotal role in synaptic transmission and plasticity, influencing learning, memory, and neural development. GRIK2's function is crucial for modulating neuronal excitability and has been implicated in various neurological conditions, including epilepsy, schizophrenia, and neurodegenerative diseases. Its involvement in the fine-tuning of synaptic activity makes GRIK2 a potential target for therapeutic interventions aimed at disorders characterized by aberrant glutamatergic signaling. Understanding the regulatory mechanisms of GRIK2 and its interaction with other components of the synaptic machinery is key to deciphering the complex network of neural communication and its impact on brain function and pathology.
INPPL1 (Inositol Polyphosphate Phosphatase-Like 1): INPPL1, also known as SHIP2 (Src Homology 2 domain-containing Inositol Phosphatase 2), is a phosphatase that plays a crucial role in the regulation of phosphoinositide signaling pathways, which are integral to various cellular processes such as proliferation, survival, and migration. This enzyme specifically dephosphorylates the 5' position of the inositol ring in phosphatidylinositol 3,4,5-trisphosphate (PIP3), thereby acting as a negative regulator of the PI3K (phosphoinositide 3-kinase) signaling pathway. INPPL1's activity is implicated in the modulation of insulin signaling and glucose homeostasis, making it a significant player in metabolic regulation and a potential target for the treatment of conditions like insulin resistance and type 2 diabetes. Furthermore, its involvement in cellular processes underscores its relevance in cancer biology, where its dysregulation may contribute to tumorigenesis and cancer progression. The critical role of INPPL1 in cellular signaling pathways highlights its potential as a therapeutic target for metabolic diseases and cancer.
NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule prominently expressed in the central nervous system, playing a pivotal role in neuronal growth, differentiation, and synaptic plasticity. It is involved in the formation and maintenance of neuronal networks, contributing to cognitive functions such as learning and memory. NEGR1 functions as a mediator of cell-cell interactions, facilitating communication between neurons and supporting neural tissue structure. Its expression patterns and functional implications in neurodevelopment suggest a critical role in brain development and the pathophysiology of neurological disorders. Dysregulation or mutations in NEGR1 have been associated with neurodevelopmental disorders, obesity, and susceptibility to psychiatric conditions, indicating its significance in both brain function and disease. Understanding NEGR1's mechanisms and interactions provides insights into the complex processes of neuronal connectivity and offers potential therapeutic targets for treating neurological and mental health disorders.
PAX2 (Paired Box Gene 2): PAX2 is a crucial transcription factor in the paired box gene family, playing an essential role in the development of the kidneys and the urinary tract. It acts early in the embryonic stages to regulate the formation of tissues and organs, guiding the development of the renal system, eye, ear, and central nervous system. By influencing cell proliferation, differentiation, and apoptosis, PAX2 helps in the formation of essential structures within these systems. Aberrations in PAX2 expression or function have been linked to congenital anomalies of the kidney and urinary tract (CAKUT), as well as to conditions affecting vision and hearing. Beyond development, PAX2's role in cellular processes implicates it in cancer biology, where it may contribute to tumor progression and metastasis, particularly in renal and ovarian cancers. The study of PAX2 not only sheds light on developmental biology but also offers potential therapeutic targets for addressing congenital disorders and malignancies related to its dysregulation.
PRDM6 (PR Domain Containing 6): PRDM6 is a member of the PRDM family of transcriptional regulators, known for its role in epigenetic modifications and gene expression regulation. It acts primarily as a transcriptional repressor, influencing the development and function of cardiovascular and other systems by modulating the expression of genes involved in cell differentiation, proliferation, and apoptosis. PRDM6 is particularly important in vascular development and smooth muscle cell differentiation, where its precise regulation is crucial for normal blood vessel formation and cardiovascular homeostasis. Dysregulation of PRDM6 has been implicated in various pathological conditions, including hypertension, vascular remodeling, and potentially contributing to the progression of cardiovascular diseases. Its function in gene silencing and activation through histone modifications underlines its importance in cellular and developmental biology, making PRDM6 a potential target for therapeutic interventions in diseases related to vascular abnormalities and beyond.
RGS6 (Regulator of G Protein Signaling 6): RGS6 is a member of the RGS family, which plays a crucial role in regulating G protein-coupled receptor (GPCR) signaling pathways. By accelerating the GTPase activity of G protein α subunits, RGS6 effectively turns off GPCR signaling, serving as a critical modulator of signal transduction. This modulation is vital for a wide range of physiological processes including sensory perception, cardiovascular regulation, and central nervous system functions. RGS6's ability to finely tune GPCR signaling makes it a significant player in the control of cellular responses to external stimuli. Dysregulation of RGS6 activity has been implicated in various pathological conditions, such as cancer, cardiovascular diseases, and neurological disorders. Its role in these diverse signaling pathways highlights the potential of RGS6 as a therapeutic target for the development of drugs aimed at treating diseases associated with GPCR signaling abnormalities.
RNF220 (Ring Finger Protein 220): RNF220 is a member of the ring finger protein family, characterized by its ring finger domain, which is implicated in mediating protein-protein interactions and ubiquitination processes. This enzyme plays a significant role in the ubiquitin-proteasome system, a critical pathway for protein degradation and turnover, which is essential for maintaining cellular homeostasis. Through its E3 ubiquitin ligase activity, RNF220 is involved in targeting specific substrates for degradation, thus regulating various cellular processes including signal transduction, transcriptional control, and the cell cycle. The dysregulation of RNF220 activity can contribute to pathological conditions, such as cancer, neurodegenerative diseases, and immune disorders, by affecting the stability and function of key regulatory proteins. Understanding the specific roles and mechanisms of RNF220 in ubiquitination highlights its potential as a therapeutic target in diseases associated with protein misfolding and degradation pathways.
SERINC2 (Serine Incorporator 2): SERINC2 is part of the SERINC family of proteins, which are involved in the incorporation of serine into membrane lipids, thereby playing a crucial role in the biosynthesis and maintenance of cellular membranes. This protein contributes to various cellular processes, including membrane fluidity, signaling pathways, and the immune response. SERINC2, like its family members, is implicated in the modulation of membrane composition and function, influencing cell proliferation, differentiation, and apoptosis. Its activity is essential for the proper functioning of cells and the maintenance of physiological homeostasis. Dysregulation or mutations in the SERINC2 gene can impact cellular health and has been associated with certain metabolic and immune system disorders. Understanding the function and regulation of SERINC2 is vital for elucidating its role in health and disease, offering potential insights for therapeutic interventions targeting cellular membranes and their associated functions.
SOX5 (SRY-Related HMG-Box Gene 5): SOX5 is a member of the SOX (SRY-related HMG-box) family of transcription factors, known for playing a pivotal role in the regulation of embryonic development and the determination of cell fate. It is involved in a wide range of biological processes, including the regulation of chondrogenesis, the development of the nervous system, and the differentiation of various cell types. SOX5 functions by binding to DNA and influencing the transcription of genes crucial for cell growth, development, and differentiation. Mutations or dysregulation of SOX5 have been implicated in diverse pathological conditions, such as developmental disorders and contributions to cancer progression. Its critical role in modulating gene expression patterns essential for development and its implication in disease states make SOX5 a significant subject of study for understanding developmental biology and potential therapeutic interventions.
SYT10 (Synaptotagmin X): SYT10, a member of the synaptotagmin family, is implicated in the regulation of neurotransmitter release and intracellular signaling pathways. Synaptotagmins are known for their critical role in synaptic vesicle trafficking and membrane fusion, with SYT10 specifically involved in calcium-dependent exocytosis in non-neuronal tissues. It acts as a calcium sensor, modulating the release of neuropeptides and hormones in response to intracellular calcium levels. The precise function of SYT10 in neurotransmission and its involvement in the modulation of synaptic plasticity underscore its potential relevance to neurological conditions and cognitive processes. Dysregulation of SYT10 expression has been associated with various neurological disorders, making it a potential target for therapeutic intervention to restore normal synaptic function and neuronal communication.
TFPI2 (Tissue Factor Pathway Inhibitor 2): TFPI2, a critical component of the coagulation cascade, acts as a potent inhibitor of the tissue factor (TF)-mediated blood coagulation pathway. It plays a significant role in maintaining hemostatic balance by preventing excessive thrombosis and modulating fibrinolysis. Located in the extracellular matrix (ECM), TFPI2 is involved in various physiological processes beyond coagulation, including cell migration, proliferation, and angiogenesis, contributing to tissue repair and remodeling. The aberrant expression of TFPI2 has been associated with numerous pathological conditions, including cancer, where it may act as a tumor suppressor gene. Its downregulation in certain cancers has been linked to increased tumor growth, invasion, and metastasis, suggesting its role in tumor suppression and its potential as a biomarker for cancer diagnosis and prognosis. The regulation of TFPI2 activity is considered a promising therapeutic target in coagulation disorders, cancer, and other diseases where its pathophysiological roles are significant.
Salt Sensitivity
ACEMTHFD2SCNN1ASLC4A4
ACE (Angiotensin-Converting Enzyme): ACE is a crucial enzyme in the Renin-Angiotensin System (RAS), primarily involved in blood pressure regulation and fluid balance. It catalyzes the conversion of angiotensin I to angiotensin II, a potent vasoconstrictor, thereby playing a pivotal role in controlling vascular tone and electrolyte balance. Angiotensin II's effects include constriction of blood vessels, stimulation of aldosterone secretion, and elevation of blood pressure. Beyond its vasoactive functions, ACE has implications in various physiological and pathological processes, including heart function, kidney disease, and inflammatory responses. Dysregulation of ACE activity is associated with hypertension, heart failure, and renal diseases, making it a significant target for cardiovascular and renal therapeutics. ACE inhibitors, which block the conversion of angiotensin I to angiotensin II, are widely used in the treatment of high blood pressure, heart failure, and certain types of kidney disease, underscoring the enzyme's importance in human health and disease management.
MTHFD2 (Methylenetetrahydrofolate Dehydrogenase 2): MTHFD2 is an enzyme that plays a vital role in the mitochondrial one-carbon metabolic pathway, crucial for nucleotide biosynthesis, methylation reactions, and amino acid homeostasis. This enzyme is highly expressed in rapidly dividing cells, including cancer cells, where it contributes to the synthesis of purines and thymidylate, essential for DNA replication and repair. MTHFD2's involvement in cellular metabolism and proliferation highlights its importance in developmental processes and cellular growth. Due to its pivotal role in supporting the metabolic demands of tumor growth and its limited expression in normal adult tissues, MTHFD2 has emerged as a potential target for cancer therapy. Its inhibition could disrupt the metabolic flexibility of cancer cells, making it a focus of interest for the development of novel anticancer strategies. The study of MTHFD2's function and regulation offers insights into metabolic adaptations in cancer and the potential for therapeutic interventions targeting metabolic pathways.
SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A encodes the alpha subunit of the epithelial sodium channel (ENaC), a key regulator of sodium balance and fluid homeostasis in epithelial tissues such as the lungs, kidneys, and colon. This channel plays a critical role in the absorption of sodium from extracellular fluids, a process essential for maintaining blood pressure, fluid volume, and electrolyte balance. The SCNN1A subunit is fundamental for ENaC's proper assembly, localization, and function. Mutations in the SCNN1A gene can lead to altered channel activity, contributing to various diseases, including pseudohypoaldosteronism type 1 (PHA1), a disorder characterized by salt wasting and failure to thrive. The precise regulation of ENaC, and by extension SCNN1A, is vital for normal physiological function, making it a significant focus in understanding and treating conditions related to fluid and electrolyte imbalances.
SLC4A4 (Solute Carrier Family 4, Member 4): SLC4A4, part of the solute carrier family, is predominantly involved in the regulation of bicarbonate transport and acid-base balance within the body. It functions as an electrogenic sodium bicarbonate cotransporter, primarily expressed in the kidneys and pancreas, playing a critical role in renal bicarbonate reabsorption and pH regulation. Through its action, SLC4A4 facilitates the fine-tuning of bicarbonate secretion and reabsorption processes, essential for maintaining the body's overall acid-base homeostasis. Mutations in the SLC4A4 gene are associated with various renal tubular acidosis disorders, characterized by an inability to properly acidify the urine, leading to systemic acidosis. This highlights the importance of SLC4A4 in renal function and its potential as a therapeutic target in treating disorders related to electrolyte imbalance and acid-base dysregulation.
ApoB
APOBAPOC1APOC4APOECLPTM1PVRTOMM40
APOB (Apolipoprotein B): Apolipoprotein B is a principal component of low-density lipoproteins (LDL), which are carriers of cholesterol in the blood. APOB exists in two main isoforms, APOB-48 and APOB-100, with the latter being integral to the structure of LDL particles. APOB-100 serves as a ligand for LDL receptors, facilitating the uptake of LDL particles by cells and thus playing a crucial role in lipid metabolism and transport. Elevated levels of APOB-containing lipoproteins are strongly associated with an increased risk of atherosclerosis and cardiovascular disease, as they contribute to the formation of plaques that can narrow or block blood vessels. Furthermore, mutations in the APOB gene can lead to disorders of lipid metabolism such as familial hypercholesterolemia. Given its central role in cholesterol homeostasis and cardiovascular health, APOB is not only a key biomarker for cardiovascular risk assessment but also a potential target for therapeutic interventions aimed at reducing atherosclerotic risk.
APOC1 (Apolipoprotein C-I): APOC1 is a component of the apolipoprotein family, playing a crucial role in lipid metabolism and transport. It is associated with very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL), contributing to the regulation of triglyceride-rich lipoprotein metabolism. APOC1 acts as an inhibitor of lipoprotein lipase and hepatic lipase, enzymes essential for the hydrolysis of triglycerides, thereby influencing lipid levels in the plasma. Its involvement in lipid metabolism suggests a significant role in cardiovascular health, where dysregulation can lead to conditions such as hyperlipidemia, atherosclerosis, and consequently, cardiovascular disease. Beyond its metabolic functions, APOC1 has been implicated in neurodegenerative diseases like Alzheimer's, where it is thought to influence amyloid beta metabolism and clearance. The study of APOC1 offers insights into lipid-related disorders and potential therapeutic targets for treating diseases associated with lipid dysregulation.
APOC4 (Apolipoprotein C-IV): APOC4 is a member of the apolipoprotein family, playing a role in lipid metabolism and transport. This protein is involved in the regulation of triglyceride-rich lipoprotein particles and may influence the interaction between lipoproteins and their receptors or lipid transfer proteins. APOC4 is present in various lipoprotein fractions in plasma, including very low-density lipoproteins (VLDL) and high-density lipoproteins (HDL). Its function in lipid metabolism suggests a potential involvement in the development of cardiovascular diseases and lipid disorders. Dysregulation or genetic variations of APOC4 can impact lipid levels and distribution, contributing to atherosclerosis, coronary artery disease, and other metabolic conditions. Understanding the role of APOC4 in lipid metabolism and its implications for disease provides insights into novel therapeutic targets for managing dyslipidemia and associated cardiovascular risks.
APOE (Apolipoprotein E): APOE, a protein primarily synthesized by the liver and astrocytes in the brain, is crucial for lipid metabolism and transport, particularly in the central nervous system (CNS). It plays a significant role in the clearance of lipoproteins from circulation and the redistribution of cholesterol and other lipids to cells via interactions with cell surface receptors. APOE exists in three common isoforms—APOE2, APOE3, and APOE4—each encoded by a different allele of the APOE gene. These isoforms differ in their affinity for lipoprotein receptors and their subsequent impact on lipid metabolism. APOE4, in particular, has been extensively studied due to its association with an increased risk of Alzheimer's disease (AD). It is involved in the regulation of amyloid-beta (Aβ) metabolism, influencing the aggregation and clearance of Aβ peptides in the brain. Beyond its role in lipid metabolism, APOE has been implicated in various physiological processes, including neuronal repair, synaptic plasticity, and neuroinflammation. Understanding the intricate functions of APOE and its isoforms is crucial for unraveling the mechanisms underlying neurodegenerative diseases and developing targeted therapeutic interventions.
CLPTM1 (Cleft Lip and Palate Transmembrane Protein 1): CLPTM1 is a transmembrane protein involved in various cellular processes, including cell proliferation, apoptosis, and carcinogenesis. Although its precise function is not fully understood, studies suggest its potential involvement in cancer development and progression. CLPTM1 expression has been implicated in several cancers, including lung, pancreatic, and ovarian cancers, where it may play a role in tumor growth and metastasis. Additionally, CLPTM1 has been associated with smoking-related cancers due to its interaction with tobacco-related carcinogens. Understanding the molecular mechanisms underlying CLPTM1's function could provide insights into cancer biology and may lead to the development of novel therapeutic strategies and biomarkers for cancer diagnosis and prognosis. Further research is needed to elucidate the exact role of CLPTM1 in cancer pathogenesis and its potential as a target for therapeutic intervention.
PVR (Poliovirus Receptor): PVR, also known as the poliovirus receptor, is a transmembrane glycoprotein crucial for viral entry and infection by certain viruses, including poliovirus and related enteroviruses. Beyond its role as a viral receptor, PVR plays essential roles in cell-cell adhesion, immune response modulation, and tissue homeostasis. It serves as a key component of adherens junctions and tight junctions, contributing to the integrity of epithelial and endothelial barriers. Additionally, PVR interactions with its ligands, such as TIGIT and DNAM-1, regulate immune cell activation and function, impacting both innate and adaptive immune responses. Dysregulation of PVR expression or function has been implicated in various diseases, including viral infections, autoimmune disorders, and cancer progression. Understanding the multifaceted roles of PVR in viral pathogenesis, immune regulation, and cellular adhesion provides insights into potential therapeutic strategies targeting PVR-mediated processes.
TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial biology, specifically in the process of protein import into the mitochondria. As a component of the TOM complex, TOMM40 facilitates the translocation of nuclear-encoded proteins across the outer mitochondrial membrane, where they can fulfill various essential functions within the mitochondria. This protein is particularly notable for its association with Alzheimer's disease, as certain variants of TOMM40 have been implicated in modulating the risk and age of onset of the disease. Beyond Alzheimer's, TOMM40 has been implicated in other neurodegenerative disorders and age-related cognitive decline, underscoring its significance in mitochondrial dysfunction and neuronal health. Understanding the role of TOMM40 in mitochondrial protein import and its implications in neurodegenerative diseases holds promise for developing targeted therapies and diagnostic strategies aimed at mitigating mitochondrial dysfunction and associated pathologies.
TMAO
AK9ENPP4IFNKPHACTR4PLNRHOBTB2RPA2TENM3UBE2G1
AK9 (Adenylate Kinase 9): Adenylate Kinase 9, also known as AK9, is a member of the adenylate kinase family, which catalyzes the reversible transfer of phosphate groups between adenine nucleotides, primarily ATP and AMP. AK9 specifically localizes to the mitochondria, where it plays a crucial role in energy metabolism and nucleotide homeostasis. By facilitating the interconversion of ATP and AMP, AK9 contributes to the regulation of cellular energy levels and the maintenance of adenine nucleotide balance. This enzyme is implicated in various cellular processes, including mitochondrial biogenesis, apoptosis, and stress response pathways. Dysregulation of AK9 has been linked to metabolic disorders, neurodegenerative diseases, and cancer, underscoring its significance in cellular physiology and pathology. Understanding the role of AK9 in mitochondrial function and nucleotide metabolism holds promise for developing targeted therapies for diseases associated with mitochondrial dysfunction and energy imbalance.
ENPP4 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 4): ENPP4 is a member of the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP) family of enzymes, which play important roles in purinergic signaling and phosphate homeostasis. ENPP4 specifically functions as both a phosphodiesterase, catalyzing the hydrolysis of phosphodiester bonds, and a pyrophosphatase, cleaving pyrophosphate bonds. It is predominantly expressed in tissues such as the kidney, liver, and brain, where it participates in various physiological processes including bone mineralization, lipid metabolism, and regulation of extracellular nucleotide levels. ENPP4 has also been implicated in modulating immune responses and inflammation through its interaction with purinergic receptors. Dysregulation of ENPP4 activity has been associated with pathological conditions such as nephrolithiasis, atherosclerosis, and cancer progression, highlighting its importance in maintaining cellular homeostasis. The multifaceted roles of ENPP4 in cellular signaling and metabolism make it a potential target for therapeutic intervention in diseases where purinergic signaling and phosphate metabolism are dysregulated.
IFNK (Interferon kappa): IFNK, belonging to the interferon family, is a cytokine involved in the regulation of immune responses, particularly in the context of skin and mucosal immunity. It plays a pivotal role in modulating inflammatory processes and antiviral defense mechanisms, exerting its effects through interaction with specific receptors on target cells. IFNK is predominantly expressed in epithelial tissues, where it contributes to the host defense against various pathogens, including viruses and bacteria. Additionally, IFNK is implicated in the maintenance of tissue homeostasis and the regulation of epithelial cell proliferation and differentiation. Dysregulation of IFNK signaling has been associated with inflammatory skin disorders, autoimmune diseases, and viral infections. The multifaceted functions of IFNK highlight its significance as a key player in mucosal immunity and its potential as a therapeutic target for immune-related disorders affecting epithelial tissues.
PHACTR4 (Phosphatase and Actin Regulator 4): PHACTR4 is a multifunctional protein involved in the regulation of cellular signaling pathways and cytoskeletal dynamics. As a member of the PHACTR family, it exerts its effects through interactions with protein phosphatase 1 (PP1) and actin filaments. PHACTR4 has been implicated in various cellular processes, including cell cycle progression, cell migration, and neuronal development. Its role in modulating PP1 activity suggests involvement in the regulation of diverse cellular functions, including gene expression and metabolism. Additionally, PHACTR4 has been associated with cardiovascular diseases, particularly coronary artery disease, where it influences endothelial function and vascular remodeling. The intricate interplay between PHACTR4, PP1, and actin dynamics underscores its importance in cellular physiology and pathology. Understanding the molecular mechanisms governed by PHACTR4 holds promise for elucidating its therapeutic potential in diseases ranging from cancer to cardiovascular disorders.
PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function. Dysregulation or mutations in PLN can lead to impaired calcium handling, contributing to cardiac arrhythmias and heart failure. Understanding the intricate role of PLN in cardiac physiology provides insights into potential therapeutic strategies targeting calcium handling abnormalities in cardiovascular diseases.
RHOBTB2 (Rho-related BTB domain-containing protein 2): RHOBTB2 is a member of the Rho family of small GTPases, known for their roles in regulating various cellular processes including cytoskeletal dynamics, cell migration, and cell cycle progression. Unlike traditional Rho GTPases, RHOBTB2 possesses an additional BTB (Bric-a-brac, Tramtrack, and Broad complex) domain, suggesting its involvement in protein-protein interactions and potential regulatory functions beyond classical Rho signaling pathways.
RHOBTB2 has been implicated in diverse cellular processes, including cell proliferation, apoptosis, and intracellular trafficking. It also plays a role in maintaining mitochondrial dynamics and function, as well as modulating cellular responses to oxidative stress. Dysregulation of RHOBTB2 has been associated with various diseases, including cancer, neurodegenerative disorders, and cardiovascular diseases, underscoring its importance in cellular homeostasis and disease pathogenesis.
The multifaceted functions of RHOBTB2 highlight its potential as a therapeutic target for diseases characterized by aberrant cellular processes. Understanding the intricate mechanisms by which RHOBTB2 regulates cellular physiology may pave the way for the development of novel therapeutic interventions aimed at modulating its activity in disease contexts.
RPA2 (Replication Protein A2): RPA2, a subunit of the Replication Protein A (RPA) complex, serves as a crucial player in DNA replication, repair, and recombination processes within the cell. As part of the RPA complex, RPA2 functions in the stabilization and protection of single-stranded DNA (ssDNA) intermediates, facilitating the progression of DNA replication forks and safeguarding genomic integrity. By binding to exposed ssDNA regions, RPA2 prevents their degradation and promotes the recruitment of other DNA repair proteins, thereby orchestrating efficient DNA damage response pathways. Moreover, RPA2 participates in various cellular processes beyond DNA replication, including telomere maintenance, DNA damage checkpoint activation, and transcriptional regulation. Dysregulation or mutations in RPA2 can lead to genomic instability, predisposing cells to cancer development and other genetic disorders. Understanding the intricate roles of RPA2 in maintaining genome stability provides valuable insights into the mechanisms underlying DNA metabolism and offers potential avenues for targeted therapeutic interventions in diseases associated with DNA repair deficiencies.
TENM3 (Teneurin-3): TENM3, a member of the teneurin family of transmembrane proteins, serves as a multifunctional regulator in various aspects of neural development and synaptic connectivity. This protein's intricate role encompasses guidance cues in axonal pathfinding, dendritic arborization, and synaptic organization, contributing significantly to the establishment and refinement of neural circuits during development. Beyond its developmental functions, TENM3 also participates in synaptic maintenance and plasticity in the adult nervous system, influencing processes such as synaptic pruning and neurotransmitter release. Dysregulation of TENM3 has been associated with neurological disorders, including autism spectrum disorders and schizophrenia, underscoring its importance in maintaining proper neural circuitry and cognitive function. Understanding the molecular mechanisms underlying TENM3's actions holds promise for elucidating the pathophysiology of neurodevelopmental disorders and may offer avenues for therapeutic interventions targeting synaptic connectivity and plasticity.
UBE2G1 (Ubiquitin-conjugating Enzyme E2 G1): UBE2G1 is a member of the ubiquitin-conjugating enzyme family, playing a pivotal role in the ubiquitin-proteasome system, a fundamental cellular pathway responsible for protein degradation and turnover. Specifically, UBE2G1 functions in the conjugation of ubiquitin molecules to target proteins, marking them for degradation by the proteasome. This enzymatic process is crucial for regulating various cellular functions, including cell cycle progression, DNA repair, and signal transduction. UBE2G1's activity is tightly regulated and orchestrated in concert with other components of the ubiquitin-proteasome system to ensure proper protein homeostasis and cellular function. Dysregulation of UBE2G1 has been implicated in various human diseases, including cancer, neurodegenerative disorders, and autoimmune diseases, underscoring its importance as a potential therapeutic target. Understanding the molecular mechanisms governing UBE2G1-mediated ubiquitination holds promise for developing novel strategies for the treatment of diseases associated with aberrant protein degradation pathways.
Homocysteine
AKR1A1CBSCOLEC12CPS1FANCAGTPBP10MMUTNOX4ZDHHC20
AKR1A1 (Aldo-keto reductase family 1 member A1): AKR1A1, a member of the aldo-keto reductase family, plays a pivotal role in cellular detoxification and metabolism. This enzyme catalyzes the reduction of various aldehydes and ketones, contributing to the regulation of oxidative stress and the detoxification of xenobiotics. AKR1A1 is involved in crucial physiological processes such as the metabolism of glucose and steroids, as well as the synthesis of prostaglandins and neurotransmitters. Its activity is essential for maintaining cellular homeostasis and protecting against oxidative damage. Dysregulation of AKR1A1 has been implicated in several pathological conditions including cancer, diabetes, and neurodegenerative diseases. Understanding the precise regulation of AKR1A1 function holds promise for developing targeted therapies for conditions related to cellular metabolism and detoxification.
CBS (Cystathionine beta-synthase): CBS, an enzyme crucial for sulfur metabolism, plays a vital role in synthesizing cysteine from homocysteine. This process is essential for the production of glutathione, an antioxidant crucial for cellular defense against oxidative stress. Additionally, CBS is involved in the transsulfuration pathway, which regulates the levels of sulfur-containing amino acids and hydrogen sulfide, a signaling molecule with various physiological functions. Proper functioning of CBS is critical for maintaining cellular redox balance, modulating vascular tone, and regulating neurotransmitter synthesis. Dysregulation of CBS activity is associated with several metabolic disorders, including homocystinuria and cardiovascular diseases. Understanding the intricate mechanisms governing CBS activity holds promise for developing therapeutic interventions for conditions related to sulfur metabolism and oxidative stress.
COLEC12 (Collectin sub-family member 12): COLEC12, a member of the collectin family, plays a pivotal role in innate immunity and host defense against pathogens. This protein is involved in the recognition and clearance of microbial pathogens through its ability to bind to specific carbohydrate patterns present on the surface of pathogens. COLEC12 is particularly important in the clearance of pathogens via the lectin pathway of the complement system, contributing to the activation of the immune response and the elimination of infectious agents. Furthermore, COLEC12 has been implicated in modulating inflammatory responses and tissue remodeling processes. Dysregulation of COLEC12 expression or function has been associated with susceptibility to infectious diseases and inflammatory disorders. Understanding the precise mechanisms underlying COLEC12-mediated immune responses holds promise for developing novel strategies for the treatment and prevention of infectious and inflammatory conditions.
CPS1 (Carbamoyl-phosphate synthase 1): CPS1, a key enzyme in the urea cycle, plays a crucial role in the detoxification of ammonia in the body. This enzyme catalyzes the formation of carbamoyl phosphate from ammonia and bicarbonate, initiating the synthesis of urea in the liver. The urea cycle is essential for removing excess nitrogen generated from the breakdown of proteins and amino acids, preventing the accumulation of toxic ammonia in the bloodstream. CPS1 activity is tightly regulated to maintain nitrogen balance and prevent hyperammonemia, a condition associated with neurological impairment and other serious complications. Dysregulation of CPS1 function can lead to urea cycle disorders, characterized by impaired ammonia detoxification and metabolic abnormalities. Understanding the intricate regulation of CPS1 and its role in nitrogen metabolism is crucial for developing targeted therapies for urea cycle disorders and related metabolic conditions.
FANCA (Fanconi anemia group A protein): FANCA is a critical component of the Fanconi anemia (FA) pathway, a DNA repair mechanism essential for maintaining genomic stability and preventing chromosomal instability. This protein is involved in the activation of the FA core complex, which functions in the recognition and repair of DNA interstrand crosslinks (ICLs). ICLs are highly toxic DNA lesions that can block DNA replication and transcription, leading to genome instability and cell death if left unrepaired. FANCA plays a pivotal role in coordinating the assembly of the FA core complex and its recruitment to sites of DNA damage, where it facilitates the repair of ICLs through various mechanisms, including homologous recombination. Dysregulation or mutations in FANCA are associated with Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. Understanding the molecular mechanisms underlying FANCA-mediated DNA repair is crucial for developing targeted therapies for Fanconi anemia and potentially other diseases associated with defective DNA repair pathways.
GTPBP10 (GTP-binding protein 10): GTPBP10 is a protein involved in the regulation of cellular processes through its interaction with guanine nucleotides. This protein belongs to the GTP-binding protein family, which encompasses a diverse group of proteins that play essential roles in signal transduction, protein synthesis, and intracellular trafficking. GTPBP10 is thought to be involved in modulating GTPase activity and may participate in the regulation of cellular functions such as protein translation and ribosome assembly.
While the specific functions of GTPBP10 are still being elucidated, studies suggest its involvement in mitochondrial function and ribosomal biogenesis. Additionally, mutations or dysregulation of GTPBP10 have been associated with certain diseases, including neurological disorders and cancer. Understanding the molecular mechanisms underlying GTPBP10 function and its role in cellular physiology is crucial for elucidating its potential implications in health and disease. Further research into the function of GTPBP10 may uncover novel therapeutic targets for the treatment of disorders associated with its dysregulation.
MMUT (Methylmalonyl-CoA mutase): MMUT is a critical enzyme involved in the metabolism of branched-chain amino acids and fatty acids. Specifically, MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an essential step in the breakdown of certain amino acids and lipids for energy production. This process occurs within the mitochondria, where MMUT helps maintain cellular energy balance and provides substrates for the citric acid cycle.
Deficiencies in MMUT activity, often due to mutations in the MMUT gene, can lead to methylmalonic acidemia (MMA), a rare inherited metabolic disorder characterized by the accumulation of methylmalonic acid and its metabolites in the body. MMA can manifest with symptoms such as developmental delays, neurological abnormalities, metabolic acidosis, and organ dysfunction. The severity and presentation of MMA can vary widely, ranging from mild to life-threatening forms.
Management of MMA typically involves dietary restrictions, supplementation with specific nutrients, and in severe cases, organ transplantation. Understanding the molecular mechanisms underlying MMUT function and the pathophysiology of MMA is crucial for developing effective diagnostic methods and therapeutic strategies to improve outcomes for individuals affected by this disorder. Ongoing research into MMUT and MMA holds promise for the development of targeted therapies aimed at correcting or mitigating the metabolic defects associated with MMUT deficiency.
NOX4 (NADPH oxidase 4): NOX4 is a member of the NADPH oxidase family of enzymes, which play essential roles in generating reactive oxygen species (ROS) within cells. Unlike other NADPH oxidases, NOX4 exhibits constitutive activity, meaning it generates ROS continuously under basal conditions. This enzyme is primarily localized to the endoplasmic reticulum and plasma membrane, where it catalyzes the transfer of electrons from NADPH to molecular oxygen, leading to the production of superoxide radicals (O2•−).
ROS generated by NOX4 serve as signaling molecules involved in various physiological processes, including cell proliferation, differentiation, and apoptosis. Additionally, NOX4-derived ROS play critical roles in redox signaling pathways that regulate vascular tone, fibrosis, and inflammation. Dysregulation of NOX4 activity has been implicated in the pathogenesis of numerous diseases, including cardiovascular diseases, cancer, neurodegenerative disorders, and metabolic syndrome.
ZDHHC20 (Zinc Finger DHHC-Type Palmitoyltransferase 20): ZDHHC20 is a member of the DHHC family of palmitoyltransferases, enzymes responsible for the post-translational modification known as protein palmitoylation. This process involves the attachment of a fatty acid, palmitate, to specific cysteine residues of target proteins, thereby modulating their cellular localization, stability, and function. ZDHHC20 specifically catalyzes the palmitoylation of target proteins, influencing their membrane association and intracellular trafficking. Through its regulatory role in protein palmitoylation, ZDHHC20 contributes to diverse cellular processes such as signal transduction, synaptic plasticity, and membrane trafficking. Dysregulation of ZDHHC20 activity has been implicated in various neurological disorders, including Alzheimer's disease and schizophrenia, highlighting its significance in neuronal function and synaptic transmission. Understanding the substrate specificity and regulatory mechanisms of ZDHHC20 could offer insights into its therapeutic potential in treating diseases associated with aberrant protein palmitoylation.
LDL Particle Size
ABCA1ADAM10ALDH1A2ANGPTL4APOHIRS1KLF14LPAMLXIPLNLRC5PKD2L1PLTPPOLKSAMM50SLC38A11SOAT2TMEM116TNXBTRIB1TRPS1
ABCA1 (ATP-binding cassette sub-family A member 1): ABCA1 is a crucial membrane protein involved in cellular lipid transport, particularly in the efflux of cholesterol and phospholipids from cells to lipid-poor apolipoproteins, forming nascent high-density lipoprotein (HDL) particles. This process, known as reverse cholesterol transport, plays a fundamental role in the regulation of cellular cholesterol homeostasis and the maintenance of lipid metabolism. ABCA1 is predominantly expressed in the liver and peripheral tissues such as macrophages, where it facilitates cholesterol removal from cells, thereby exerting anti-atherogenic effects and reducing the risk of cardiovascular diseases. Dysfunctional ABCA1 expression or mutations in the ABCA1 gene are associated with various lipid metabolism disorders, including Tangier disease and familial hypoalphalipoproteinemia, leading to impaired HDL biogenesis and increased cardiovascular risk. The pivotal role of ABCA1 in cholesterol metabolism underscores its significance as a potential therapeutic target for the prevention and treatment of atherosclerosis and related cardiovascular disorders.
ADAM10 (A Disintegrin and Metalloproteinase 10): ADAM10, a member of the ADAM (A Disintegrin And Metalloproteinase) family, is a transmembrane protease involved in diverse cellular processes such as cell adhesion, migration, and signaling. It functions primarily as a sheddase, cleaving the extracellular domain of various cell surface proteins, including growth factors, cytokines, adhesion molecules, and cell surface receptors. ADAM10-mediated proteolysis regulates crucial signaling pathways, including Notch, Eph, and cadherin signaling, influencing cell fate determination, tissue development, and homeostasis. Moreover, ADAM10 plays a pivotal role in synaptic plasticity and neurotransmission in the central nervous system. Dysregulation of ADAM10 activity has been implicated in various diseases, including cancer, Alzheimer's disease, and inflammatory disorders. Its ability to modulate the cell surface expression and activity of multiple signaling molecules highlights ADAM10's significance as a therapeutic target for diverse pathological conditions. Strategies aimed at modulating ADAM10 activity hold promise for the development of novel therapeutic interventions with potential implications in cancer therapy, neurodegenerative diseases, and inflammatory disorders.
ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is a member of the aldehyde dehydrogenase (ALDH) enzyme family, which plays a crucial role in the metabolism of both endogenous and exogenous aldehydes. Specifically, ALDH1A2 is responsible for the oxidation of retinaldehyde to retinoic acid, a biologically active form of vitamin A. This enzymatic conversion is essential for various developmental processes, including embryogenesis, tissue patterning, and organogenesis, by regulating gene expression and cellular differentiation through retinoic acid signaling pathways. ALDH1A2 expression is particularly prominent in tissues undergoing active morphogenesis, such as the developing limb buds, central nervous system, and sensory organs. Dysregulation of ALDH1A2 function has been associated with developmental abnormalities, including craniofacial defects, limb malformations, and congenital heart defects. Moreover, alterations in ALDH1A2 activity have been implicated in the pathogenesis of certain cancers, such as neuroblastoma and ovarian cancer. Thus, understanding the role of ALDH1A2 in development and disease provides valuable insights into both normal physiological processes and potential therapeutic strategies targeting retinoic acid signaling pathways.
ANGPTL4 (Angiopoietin-Like 4): ANGPTL4, a member of the angiopoietin-like protein family, is a multifunctional protein involved in regulating lipid metabolism, angiogenesis, and inflammation. It exerts its effects through various mechanisms, including inhibition of lipoprotein lipase (LPL) activity, which leads to increased plasma triglyceride levels. Additionally, ANGPTL4 modulates angiogenesis by inhibiting endothelial cell migration and tube formation, thereby influencing vascular development and remodeling. Moreover, ANGPTL4 has been implicated in inflammation regulation through its interactions with inflammatory mediators and its role in tissue repair processes. Dysregulation of ANGPTL4 has been associated with metabolic disorders such as obesity, dyslipidemia, and insulin resistance, as well as with cancer progression and metastasis. The intricate involvement of ANGPTL4 in various physiological and pathological processes highlights its potential as a therapeutic target for metabolic and vascular diseases, as well as for cancer treatment strategies aimed at inhibiting angiogenesis and metastasis.
APOH (Apolipoprotein H): APOH, also known as beta-2-glycoprotein I, is a multifunctional plasma protein crucial for maintaining lipid metabolism and hemostasis. It serves as a key component of the antiphospholipid antibody syndrome (APS), playing a regulatory role in the coagulation cascade and preventing thrombosis. APOH also interacts with various molecules including lipoproteins, phospholipids, and coagulation factors, contributing to the modulation of immune responses and the clearance of apoptotic cells. Beyond its role in hemostasis, APOH exhibits anti-inflammatory properties, participating in the regulation of endothelial function and vascular health. Dysregulation of APOH has been implicated in various disorders, including thrombotic diseases, autoimmune disorders, and cardiovascular conditions. Understanding the intricate functions of APOH offers insights into its potential as a diagnostic marker and therapeutic target for diseases involving aberrations in lipid metabolism, coagulation, and immune regulation.
IRS1 (Insulin Receptor Substrate 1): IRS1 is a pivotal signaling molecule involved in mediating the cellular response to insulin and various growth factors. It acts as an adaptor protein, linking activated insulin receptors to downstream signaling pathways. Through its interaction with multiple intracellular signaling molecules, IRS1 regulates key cellular processes such as glucose uptake, glycogen synthesis, protein synthesis, and cell growth and proliferation. Dysregulation of IRS1 signaling is implicated in insulin resistance, a hallmark of type 2 diabetes and other metabolic disorders, as well as in cancer and cardiovascular diseases. The intricate network of IRS1-mediated signaling pathways underscores its significance in maintaining metabolic homeostasis and cellular growth control. Understanding the complex regulation and function of IRS1 holds promise for the development of targeted therapies for insulin resistance and related metabolic diseases.
KLF14 (Krüppel-Like Factor 14): KLF14 is a transcription factor belonging to the Krüppel-like factor family, which plays a significant role in regulating gene expression patterns involved in various cellular processes. KLF14 is particularly notable for its involvement in metabolic regulation and adipogenesis. It acts as a key regulator of adipocyte differentiation and lipid metabolism, influencing both the storage and utilization of fats within the body. Additionally, KLF14 has been implicated in glucose homeostasis and insulin sensitivity, indicating its broader importance in metabolic health. Dysregulation of KLF14 expression has been associated with metabolic disorders such as obesity, type 2 diabetes, and cardiovascular diseases. Understanding the intricate regulatory functions of KLF14 provides insights into the molecular mechanisms underlying metabolic diseases and may offer potential targets for therapeutic interventions aimed at managing metabolic disorders.
LPA (Lysophosphatidic Acid): Lysophosphatidic acid (LPA) is a bioactive lipid molecule that serves as a potent signaling mediator involved in various physiological processes, including cell proliferation, migration, and survival. It exerts its effects by binding to specific G protein-coupled receptors, known as LPA receptors, present on the cell membrane. LPA is generated through the enzymatic hydrolysis of phospholipids, particularly phosphatidic acid, by phospholipase enzymes.
In addition to its roles in normal cellular functions, LPA has been implicated in numerous pathological conditions, including cancer, fibrosis, and cardiovascular diseases. Its ability to promote cell proliferation and migration makes it a key player in tumor progression, metastasis, and angiogenesis. Moreover, LPA signaling has been associated with inflammation, neurodegenerative disorders, and reproductive health.
The dysregulation of LPA signaling is often linked to disease development and progression, making it an attractive target for therapeutic interventions. Targeting LPA receptors or enzymes involved in LPA production or degradation holds promise for the treatment of various diseases where LPA signaling is implicated. Understanding the intricate mechanisms of LPA signaling may provide insights into novel therapeutic strategies aimed at modulating its effects for beneficial outcomes in health and disease.
MLXIPL (MLX-Interacting Protein-Like): MLXIPL encodes a protein involved in glucose metabolism and regulation of gene expression. It plays a role in glucose homeostasis and lipid metabolism, and mutations in MLXIPL have been associated with disorders related to carbohydrate metabolism.
NLRC5 (NOD-Like Receptor C5): NLRC5 is a member of the NOD-like receptor family and plays a crucial role in the immune system. It is involved in the regulation of MHC class I genes, which are essential for the immune system's ability to recognize and respond to pathogens. Abnormalities in NLRC5 function can lead to immune system dysregulation and have been associated with various autoimmune disorders.
PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1, a member of the polycystic kidney disease (PKD) family, is a transmembrane protein predominantly expressed in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays a crucial role in chemosensation and mechanosensation, particularly in taste perception and the detection of sour taste stimuli. PKD2L1 functions as a non-selective cation channel, facilitating the influx of ions upon activation by extracellular stimuli, thereby triggering cellular responses. Beyond its role in taste sensation, PKD2L1 has been implicated in other physiological processes such as gastrointestinal sensory transduction and regulation of blood pressure. Dysregulation or mutations in PKD2L1 have been associated with altered taste perception and sensory processing disorders. Understanding the function of PKD2L1 provides insights into the molecular mechanisms underlying sensory perception and may offer potential targets for therapeutic interventions in taste-related disorders.
PLTP (Phospholipid Transfer Protein): PLTP, also known as phospholipid transfer protein, is a key player in lipid metabolism and lipid transport processes within the body. It facilitates the transfer of phospholipids, such as phosphatidylcholine and phosphatidylethanolamine, between different lipoprotein particles, thereby regulating their composition and metabolism. PLTP plays a crucial role in the maintenance of plasma lipoprotein homeostasis, influencing the size, composition, and functionality of various lipoprotein fractions, including high-density lipoproteins (HDL) and low-density lipoproteins (LDL). Its activity is essential for processes like reverse cholesterol transport, which removes excess cholesterol from peripheral tissues and delivers it to the liver for excretion. Dysregulation of PLTP has been implicated in metabolic disorders such as dyslipidemia, atherosclerosis, and insulin resistance, highlighting its significance in cardiovascular health and lipid-related diseases. Understanding the molecular mechanisms underlying PLTP function presents opportunities for the development of therapeutic interventions targeting lipid metabolism and cardiovascular risk factors.
POLK (DNA Polymerase Kappa): POLK, a member of the Y-family DNA polymerases, is crucial for translesion DNA synthesis, a process that allows DNA replication to continue past DNA lesions such as UV-induced pyrimidine dimers or bulky chemical adducts. It plays a specialized role in accurately replicating damaged DNA, thereby preventing the stalling of replication forks and the formation of potentially mutagenic double-strand breaks. POLK's unique ability to replicate through lesions that would otherwise stall replicative polymerases ensures genome stability and integrity. However, its error-prone nature can also lead to mutagenesis, making it a double-edged sword in DNA repair processes. Dysregulation or mutations in POLK have been associated with increased susceptibility to carcinogenesis, as well as resistance to certain chemotherapeutic agents. Understanding the intricate functions of POLK sheds light on its potential as a therapeutic target for cancer treatment and in modulating the balance between genome stability and mutagenesis.
SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene involved in mitochondrial biology and is an essential component of the mitochondrial protein import and assembly machinery. This gene is crucial for ensuring the proper localization and function of proteins within the mitochondria. Mitochondria are the energy-producing organelles in cells, and SAMM50's role is essential for overall cellular energy metabolism and function.
SLC38A11 (Solute Carrier Family 38 Member 11): SLC38A11 is involved in amino acid transport and nutrient sensing. It plays a role in the regulation of mTORC1 signaling, which is important for cell growth and metabolism.
SOAT2 (Sterol O-Acyltransferase 2): SOAT2, a member of the sterol O-acyltransferase family, is a crucial enzyme involved in lipid metabolism, particularly in the esterification of cholesterol. This enzyme plays a significant role in the regulation of cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are stored in lipid droplets or incorporated into lipoproteins for transportation. SOAT2 is primarily expressed in tissues involved in lipid metabolism, such as the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cellular cholesterol levels, serving as a key mechanism to prevent cholesterol toxicity and maintain lipid homeostasis. Dysregulation of SOAT2 activity has been implicated in various metabolic disorders, including atherosclerosis, obesity, and non-alcoholic fatty liver disease (NAFLD). Therefore, SOAT2 represents a potential therapeutic target for modulating cholesterol metabolism and mitigating the risk of cardiovascular and metabolic diseases. Understanding the intricate regulation and function of SOAT2 offers insights into lipid metabolism and provides avenues for the development of novel therapeutic interventions targeting dyslipidemia and related disorders.
TMEM116 (Transmembrane Protein 116): TMEM116 is a transmembrane protein that spans the cell membrane, belonging to a family of proteins involved in diverse cellular processes. While its specific function is still being elucidated, TMEM116 is implicated in cellular transport and signaling pathways within the cell. It likely plays a role in membrane dynamics, possibly participating in vesicle trafficking or ion channel regulation. Although its exact mechanism of action remains to be fully understood, emerging research suggests its involvement in cellular homeostasis and intracellular communication. Dysregulation of TMEM116 expression or function may have implications for various physiological processes and could potentially contribute to the development or progression of certain diseases. Further investigation into the precise function and regulatory mechanisms of TMEM116 is essential for a comprehensive understanding of its role in cellular physiology and pathology, offering potential insights into therapeutic strategies targeting its activity.
TNXB (Tenascin-XB): TNXB, a member of the tenascin family of extracellular matrix proteins, plays a pivotal role in tissue development, organization, and homeostasis. It is primarily expressed in connective tissues, where it contributes to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB is involved in cell adhesion, migration, and proliferation, influencing processes such as wound healing, tissue remodeling, and organogenesis. Its expression is particularly prominent in skin, tendons, and blood vessels, where it modulates the mechanical properties and resilience of these tissues. Mutations or deficiencies in TNXB have been associated with Ehlers-Danlos syndrome (EDS), a group of connective tissue disorders characterized by hypermobility, skin hyperextensibility, and joint laxity. Understanding TNXB's role in maintaining tissue integrity and elasticity offers insights into the pathophysiology of EDS and other connective tissue disorders, highlighting its potential as a therapeutic target for managing these conditions.
TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research.
TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor involved in the regulation of growth and development of bone, hair, and connective tissue. Mutations in TRPS1 cause Tricho-Rhino-Phalangeal syndrome, characterized by craniofacial and skeletal abnormalities. Understanding TRPS1's function helps in diagnosing and managing this syndrome, with research focused on elucidating its role in tissue development and differentiation.
FAQ
How is the DNA Cardiovascular Health test carried out?
Our DNA Cardiovascular Health test is a home test kit. After ordering, we will send you a kit with everything you need to collect the saliva sample. Then, simply return your sample to us in the pre-paid envelope.
How quickly will I receive my results?
Once we receive your sample, you can expect to get your results within 6-8 weeks.
When should I take the test?
The test can be collected at any time of the day.
Example Report
Example of DNA Cardiovascular Health Test
Reviews
1 reviews
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Could you please confirm if the cardiovascular test will cover hypertension and the consequences of and if not do you do such a test?Hi Rowena! Sorry to keep you waiting. These comments sometimes get lost in all the spam comments. If you email us at [email protected], I can send you a sample report for you to see. With that said, it doesn't directly test for your risk of hypertension. However, many of the genes affecting cardiovascular disease are indirectly involved in hypertension as well.
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