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The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.

<p>The GetTested DNA Metabolic Health Test provides you with an in-depth understanding of your metabolic health by analyzing 240 carefully selected genes. This comprehensive analysis offers insights into your metabolism, blood sugar, weight, thyroid, parathyroid, and much more, along with personalized recommendations based on your genetics.</p>

DNA Metabolic Health Test

CACHD1 (Cache Domain Containing 1): CACHD1 is a relatively less-characterized gene. It is thought to be involved in ion channel regulation and neuronal signaling, potentially impacting synaptic transmission and nervous system function....



CACHD1

CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit): CHRNB2 encodes a subunit of the nicotinic acetylcholine receptors, which are important for neuronal signaling. Mutations in this gene have been associated with epilepsy, particularly nocturnal frontal lobe epilepsy, underscoring its role in neuronal excitability and synaptic transmission....



CHRNB2

ZMYM6 (Zinc Finger MYM-Type Containing 6): ZMYM6 is a zinc finger protein thought to be involved in transcriptional regulation and chromatin remodeling. It may play a role in gene expression regulation and has been studied in the context of hematological malignancies. The specific functions of ZMYM6 in normal physiology and disease are still being elucidated....

ZMYM6

CHD6 (Chromodomain Helicase DNA Binding Protein 6): CHD6 is a member of the chromodomain helicase DNA-binding family, involved in chromatin remodeling. It plays a role in regulating gene expression and maintaining genomic integrity. Dysfunctions in CHD6 can affect cellular development and differentiation, and have been linked to various cancers....



CHD6

CA8, also known as Carbonic Anhydrase VIII, is an enzyme belonging to the carbonic anhydrase family, which catalyzes the reversible hydration of carbon dioxide to bicarbonate ions and protons. Positioned predominantly within the cytoplasm and mitochondria of cells, CA8 plays a crucial role in maintaining pH homeostasis and regulating ion transport processes. One of the distinctive features of CA8 is its expression in various tissues, including the brain, kidneys, and reproductive organs, highlighting its diverse physiological roles beyond traditional carbonic anhydrase functions. Within the central nervous system, CA8 is particularly abundant in Purkinje cells of the cerebellum, where it is implicated...



PDE6C (Phosphodiesterase 6C): PDE6C encodes a subunit of phosphodiesterase 6, an enzyme that is essential for phototransduction in the retina. Phototransduction is the process by which light signals are converted into electrical signals in photoreceptor cells, enabling vision. Mutations in PDE6C can lead to visual impairments and retinal disorders, emphasizing its critical role in visual perception. ...

PDE6C

CA3 (Carbonic Anhydrase III): CA3 is an enzyme that plays a significant role in pH regulation and ion exchange in tissues, particularly in muscles. It's involved in the rapid conversion of carbon dioxide to bicarbonate and protons, contributing to various physiological processes including respiratory gas transport and acid-base balance in blood and tissues....



ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein with KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1 and Number 18 cDNA) domains, which are involved in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation....

ZKSCAN5

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...

GTPBP10

GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 plays a role in detoxification processes by conjugating reduced glutathione to a wide variety of exogenous and endogenous compounds. Polymorphisms in GSTP1 are associated with susceptibility to cancer and other diseases where detoxification is a factor....

GSTP1

GSTM3 (Glutathione S-Transferase Mu 3): GSTM3 is part of the glutathione S-transferase family, which plays a significant role in detoxifying endogenous and exogenous compounds. It is involved in the metabolism of carcinogens, drugs, and products of oxidative stress, and variations in this gene can affect susceptibility to various diseases, including cancer and neurodegenerative disorders....

GSTM3

SHPRH (SNF2 Histone Linker PHD RING Helicase): SHPRH is a DNA helicase involved in the repair of DNA damage and the maintenance of genomic stability. It plays a critical role in the DNA damage response by facilitating the repair of DNA double-strand breaks, thereby preventing mutations that could lead to cancer. SHPRH has been identified as a tumor suppressor, with mutations in this gene associated with increased susceptibility to various cancers, highlighting its importance in protecting against genomic instability and tumorigenesis....



SHPRH

ENOSF1 (Enolase Superfamily Member 1): ENOSF1, enolase superfamily member 1, is implicated in the cellular response to vitamin B2 (riboflavin) availability and is associated with the metabolism of cancer cells, particularly in how they adapt to varying nutrient conditions. Alterations in ENOSF1 expression have been studied in the context of tumor metabolism, suggesting a potential role in cancer progression and the development of targeted therapies that exploit metabolic vulnerabilities of cancer cells....

ENOSF1

SHQ1 (SHQ1, H/ACA Ribonucleoprotein Assembly Factor): SHQ1 is a crucial assembly factor for H/ACA ribonucleoproteins (RNPs), which are involved in the processing and modification of RNA. This includes the maturation of rRNA, snRNA, and the stabilization of telomerase RNA component (TERC). SHQ1 plays a vital role in the biogenesis of H/ACA RNPs, essential for proper cell function and maintenance of genomic stability. Disruptions in SHQ1 function can lead to defects in RNA processing and are implicated in various cellular dysfunctions....



SHQ1

ZFPM1 (Zinc Finger Protein, FOG Family Member 1): ZFPM1, also known as FOG-1, is a cofactor that interacts with GATA family transcription factors, playing a crucial role in the development and differentiation of various cell types, including those in the heart and blood. It is particularly important for erythroid and megakaryocyte differentiation. Mutations or dysregulation of ZFPM1 can affect hematopoiesis, leading to blood disorders. Additionally, ZFPM1's involvement in cardiac development implicates it in congenital heart defects. Research on ZFPM1 focuses on understanding its role in the intricate network of gene regulation governing cell fate decisions, with implications for treating related...

ZFPM1

SH3YL1 (SH3 And SYLF Domain Containing 1): SH3YL1 is a gene that encodes a protein containing SH3 (Src homology 3) and SYLF domains, suggesting a role in protein-protein interactions. The specific function of SH3YL1 is still under investigation, but it may be involved in cellular signaling pathways and membrane dynamics....



SH3YL1

FERD3L (Fer3-Like BHLH Transcription Factor): FERD3L is a transcription factor with potential roles in neuronal development and differentiation. Its exact functions are still being elucidated, but it may be involved in neurodevelopmental processes....

FERD3L

ZFP57 (ZFP57 Zinc Finger Protein): ZFP57 is a KRAB-zinc finger protein involved in the regulation of genomic imprinting and methylation. It's essential for maintaining the epigenetic stability of imprinted genes during early embryonic development. Mutations in ZFP57 have been linked to transient neonatal diabetes and other imprinting disorders, underscoring its role in epigenetic regulation and developmental processes....

ZFP57

SGK1 (Serum/Glucocorticoid Regulated Kinase 1): SGK1 is a serine/threonine kinase regulated by glucocorticoids and involved in cell survival, ion transport, and metabolic processes. It plays a role in responding to stress and in the regulation of ion channels, particularly in the kidneys, affecting sodium and water balance. Dysregulation of SGK1 has implications in hypertension, diabetic nephropathy, and could contribute to the development of certain cancers....



SGK1

C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a lesser-characterized gene, and its function in human biology is not fully established. Genes identified as "open reading frames" (ORFs) are often subjects of ongoing research to determine their roles in cellular processes and their potential implications in health and disease....



C1ORF87

FCHSD2 (FCH And Double SH3 Domains 2): FCHSD2 is involved in cellular processes like endocytosis and cytoskeletal organization. It's notable for its role in vesicle transport and has been linked to certain cancers. Its function in cell signaling and membrane dynamics makes it relevant in understanding cellular communication and disease mechanisms....

FCHSD2

ZCCHC7 (Zinc Finger CCHC-Type Containing 7): ZCCHC7 is part of the zinc finger protein family, known for roles in DNA binding and gene regulation. Its precise function is not well-defined, but like other zinc finger proteins, it may be involved in transcriptional regulation, RNA processing, or DNA repair processes, impacting various cellular functions and potentially playing a role in disease mechanisms....




ZCCHC7

C1D (Nuclear Nucleic Acid-Binding Protein C1D): C1D is a nuclear protein that is involved in nucleic acid binding and ribonucleoprotein complex assembly. It plays a role in RNA processing and transcription regulation. C1D has been studied in the context of DNA repair and may have implications in cancer biology....



CITED2 (Cbp/p300-Interacting Transactivator With Glu/Asp-Rich Carboxy-Terminal Domain 2): CITED2 is a transcriptional modulator that interacts with various transcription factors and regulates gene expression. It's involved in embryonic development, including heart and neural development, and is implicated in response to hypoxia. Dysregulation of CITED2 can contribute to congenital abnormalities and other developmental disorders....



CITED2

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....



C19ORF12

IGF1R (Insulin-like Growth Factor 1 Receptor): IGF1R encodes a receptor critical for responding to insulin-like growth factors (IGFs). Its central role in growth and development is well-established. IGF1R influences various cellular processes, including growth, survival, and metabolism regulation. Dysregulation of this receptor has been implicated in several diseases, making it a subject of interest in both developmental biology and clinical medicine....

IGF1R

FGF5 (Fibroblast Growth Factor 5): FGF5 is a member of the fibroblast growth factor family, a group of proteins known for their roles in cellular proliferation, differentiation, and signaling. As a key mediator of biological processes, FGF5 is involved in the regulation of hair growth cycles, and its activity has been linked to influencing hair length in various species. Beyond its role in hair follicle regulation, FGF5 contributes to the development and repair of tissues, including the nervous system, where it plays a role in neural development. Dysregulation of FGF5 has been implicated in certain pathological conditions, such as cancer,...

FGF5

ZBTB26 (Zinc Finger And BTB Domain Containing 26): ZBTB26 is a gene that encodes a transcription factor with zinc finger and BTB (Broad-Complex, Tramtrack, Bric-a-Brac) domains. It is involved in the regulation of gene expression and may play a role in developmental processes and immune responses. Further research is needed to fully understand its function and implications....




ZBTB26

PCNX3 (Pecanex Homolog 3): PCNX3 is a less-characterized gene but is thought to be involved in cellular processes like protein processing and trafficking. Its role in human physiology and pathology is still being elucidated....




PCNX3

BIN1 (Bridging Integrator 1): BIN1 is a protein that is essential for cellular membrane dynamics. It is involved in processes such as endocytosis and membrane curvature. BIN1 acts as a bridging factor and plays a critical role in facilitating membrane invaginations called tubules, which are essential for various cellular functions....



BIN1

CHL1 (Cell Adhesion Molecule L1-Like): CHL1 is a cell adhesion molecule involved in the development and function of the nervous system. It plays a significant role in neuron migration and synaptic plasticity. Alterations in CHL1 are linked to neurodevelopmental disorders, including autism and intellectual disabilities....



CHL1

CKM (Creatine Kinase, Muscle): CKM is an enzyme specific to muscle tissue, where it plays a crucial role in energy metabolism by catalyzing the reversible transfer of phosphate between ATP and creatine to maintain a constant supply of ATP during muscle contraction. Elevated levels of CKM in the blood are indicative of muscle damage and are used as a biomarker for myocardial infarction, muscular dystrophy, and other conditions involving muscle injury....



FMO4 (Flavin Containing Monooxygenase 4): FMO4 is part of the flavin-containing monooxygenase family, enzymes that play a crucial role in the detoxification of xenobiotics, drugs, and endogenous compounds by catalyzing the oxidation of soft nucleophiles. FMO4 is expressed primarily in the liver and has a substrate specificity that can influence the metabolism and elimination of various substances, potentially affecting drug responses and toxicity. Research into FMO4 focuses on its role in metabolic pathways and its implications for pharmacology and toxicology....

FMO4

CHMP3 (Charged Multivesicular Body Protein 3): CHMP3 is part of the ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) involved in the formation of multivesicular bodies. It plays a critical role in the sorting of ubiquitinated membrane proteins for degradation in lysosomes....



CHMP3

SHMT1 (Serine Hydroxymethyltransferase 1): SHMT1 catalyzes the conversion of serine and tetrahydrofolate to glycine and methylenetetrahydrofolate, crucial for nucleotide synthesis and methylation reactions. Its function is vital for DNA replication and repair, impacting cell proliferation and genetic stability. SHMT1's role in folate metabolism links it to cancer risk and neurological disorders....



SHMT1

CHDH (Choline Dehydrogenase) plays a vital role in choline metabolism, converting choline into betaine. This process is essential for the synthesis of acetylcholine, a critical neurotransmitter, and for the methylation of homocysteine, reducing the risk of cardiovascular conditions. CHDH activity affects choline availability in the body, influencing liver function, brain development, and nervous system health. Research into CHDH can provide insights into nutritional requirements and potential interventions for metabolic disorders....



CHDH

IGF2 (Insulin-Like Growth Factor 2): IGF2 plays a crucial role in growth and development, particularly during fetal development. It is part of the insulin-like growth factor system, which has significant effects on cell growth, proliferation, and survival. IGF2 is also involved in muscle growth and differentiation and has been linked to various cancers due to its cell proliferation-promoting effects. The regulation of IGF2 is important in understanding growth disorders and potential cancer therapies....

IGF2

SHLD1 (Shieldin Complex Subunit 1): SHLD1 is a component of the shieldin complex, which plays a key role in DNA repair. It is involved in the repair of double-strand breaks, particularly in non-homologous end joining, a crucial process for maintaining genomic stability and preventing mutagenesis....



SHLD1

PCSK2 (Proprotein Convertase Subtilisin/Kexin Type 2): PCSK2 is involved in the processing of precursor proteins into their biologically active forms. It is particularly important in the maturation of neuropeptides and hormones in neuroendocrine tissues. Dysregulation of PCSK2 can affect the synthesis of important signaling molecules, impacting processes like stress response, metabolism, and growth....




PCSK2

FGF13 (Fibroblast Growth Factor 13): FGF13, a member of the fibroblast growth factor (FGF) family, operates at the crossroads of cellular growth and differentiation. This protein is a key orchestrator in the complex symphony of cellular processes, influencing cell development and differentiation. Its spotlight in the realm of neuroscience is well-established, where it contributes to the functioning of neurons. Researchers delve into the depths of FGF13's impact on neurological disorders, aiming to unlock its potential in understanding conditions that affect the brain and nervous system....

FGF13

BLOC1S2 (Biogenesis of Lysosomal Organelles Complex-1, Subunit 2): BLOC1S2 is part of a protein complex involved in the biogenesis of lysosome-related organelles, such as melanosomes and platelet dense granules. Dysfunctions in BLOC1S2 can affect organelle formation and function, potentially leading to disorders related to pigmentation or blood clotting....



BLOC1S2

CHODL (Chondrolectin): CHODL encodes a protein that may be involved in cell adhesion and chondrocyte differentiation. Its exact function is not fully understood, but it may have roles in cartilage formation and musculoskeletal development....



CHODL

XDH, or Xanthine dehydrogenase, is an enzyme that plays a crucial role in purine metabolism, a pathway responsible for the synthesis and degradation of purine nucleotides such as adenine and guanine. XDH catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid, the final product of purine degradation in humans. One of the primary functions of XDH is its involvement in the breakdown of purines to uric acid, a process essential for the elimination of excess purines from the body. Purines are derived from dietary sources and the breakdown of nucleic acids, and their metabolism is tightly regulated to...

CHRNB3 (Cholinergic Receptor Nicotinic Beta 3 Subunit): CHRNB3 is another subunit of the nicotinic acetylcholine receptor, and like CHRNA4, is involved in cholinergic neurotransmission. Genetic variations in CHRNB3 are associated with nicotine dependence and related behavioral traits, highlighting its role in the addictive properties of nicotine and potential influence on neural circuitry involved in addiction....



CHRNB3

IGFBP3 (Insulin-Like Growth Factor Binding Protein 3): IGFBP3 encodes a protein that binds to insulin-like growth factors (IGFs), regulating their bioavailability. This regulation has a profound impact on cell growth, development, and metabolism. IGFBP3 is of particular interest in cancer research, as it can either inhibit or enhance the actions of IGFs, depending on cellular contexts, making it a key player in tumorigenesis and therapeutic strategies....

IGFBP3

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...



CHRM2

CHD1L (Chromodomain Helicase DNA Binding Protein 1-Like): CHD1L is a member of the chromodomain helicase DNA-binding family, playing a role in chromatin remodeling and DNA repair. It is involved in maintaining genomic stability and has been implicated in the development and progression of various cancers, particularly liver cancer....



CHD1L

PDE10A (Phosphodiesterase 10A): PDE10A encodes an enzyme called phosphodiesterase 10A, which regulates intracellular signaling by hydrolyzing cyclic nucleotides, particularly cAMP and cGMP. PDE10A is primarily expressed in the brain and is involved in neuronal signaling. It has been implicated in neurological and psychiatric disorders....

PDE10A

CAMK1G (Calcium/Calmodulin-Dependent Protein Kinase IG): CAMK1G, also known as calcium/calmodulin-dependent protein kinase IG, is part of the CaMK kinase family that plays pivotal roles in the calcium signaling pathways. These kinases are activated by calcium influx and calmodulin binding, leading to the phosphorylation of various protein targets involved in numerous cellular processes, including gene expression, cell cycle progression, and synaptic transmission. CAMK1G is specifically implicated in the regulation of neuronal function and plasticity, contributing to learning and memory. Dysregulation of CAMK1G activity has been associated with neurological disorders, underlining its importance in maintaining neuronal health and signaling balance....



CAMK1G

FGGY (FGGY Carbohydrate Kinase Domain Containing): FGGY is a carbohydrate kinase involved in carbohydrate metabolism. Its exact role and functions are not fully elucidated, but carbohydrate kinases are known to be important in energy metabolism and may play roles in metabolic disorders....

FGGY

IKBIP (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-Cells, Inhibitor Protein): IKBIP is involved in the negative regulation of NF-κB signaling, a pathway critical for immune response, inflammation, and cell survival. It acts by inhibiting the activity of NF-κB in the cytoplasm, preventing its translocation to the nucleus and activation of target genes. Dysregulation of NF-κB signaling through IKBIP has implications in autoimmune diseases, chronic inflammation, and cancer, emphasizing its role in controlling immune and inflammatory responses....

IKBIP

FFAR4 (Free Fatty Acid Receptor 4): FFAR4, also known as GPR120, is a receptor for omega-3 fatty acids and plays a significant role in metabolic regulation and inflammatory processes. It is involved in the regulation of insulin sensitivity, anti-inflammatory responses, and appetite control. Research suggests that FFAR4 is a potential therapeutic target for metabolic disorders like obesity and type 2 diabetes....

FFAR4

CNTNAP5 (Contactin-Associated Protein-Like 5): CNTNAP5 is a gene associated with proteins that are part of the contactin-associated protein (CASPR) family. These proteins are involved in neural development and the formation of specialized cell-cell contacts in the nervous system. CNTNAP5 likely contributes to the organization of neural circuits and synaptic function....



CNTNAP5

FDX1 (Ferredoxin 1): FDX1 plays a crucial role in mitochondrial electron transport, facilitating the transfer of electrons in various metabolic processes, including steroid hormone biosynthesis and detoxification reactions. It is a key component in the synthesis of iron-sulfur clusters, essential cofactors for many enzymes. Dysregulation of FDX1 has implications for energy metabolism and has been explored in the context of diseases related to mitochondrial function....

FDX1

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....




PHACTR4

SH2B1 (SH2B Adaptor Protein 1): SH2B1 is a key adaptor protein that supports various intracellular signaling pathways, especially those related to insulin and leptin. It's important for energy balance, body weight regulation, and glucose metabolism. Genetic variants of SH2B1 are associated with obesity and insulin resistance....



SH2B1

PDE3A (Phosphodiesterase 3A): PDE3A is an enzyme involved in the regulation of cyclic nucleotides, playing a key role in cardiovascular function and lipid metabolism. It is important for the regulation of blood vessel tone and heart contractility. Inhibitors of PDE3A are used in the treatment of certain cardiovascular diseases....




PDE3A

PHF14 (PHD Finger Protein 14): PHF14 is a gene encoding a protein with a PHD finger domain, suggesting a role in chromatin-mediated regulation of gene expression. It may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 can have implications in developmental disorders and various cancers....




PHF14

FCRL3 (Fc Receptor-Like 3): FCRL3 is a member of the Fc receptor-like (FCRL) gene family and is primarily expressed in B cells. It is involved in modulating B cell receptor signaling and antibody production. FCRL3 may play a role in regulating immune responses and autoimmune diseases....

FCRL3

SFTPA1 (Surfactant Protein A1): SFTPA1 encodes a protein crucial in lung function, particularly in the innate immune response of the respiratory tract. It helps in reducing surface tension in the lungs and plays a role in defending against respiratory pathogens. Mutations in SFTPA1 are associated with respiratory diseases....



SFTPA1

CERS6, also known as Ceramide Synthase 6, is an enzyme involved in the biosynthesis of ceramides, which are essential components of cell membranes and serve as signaling molecules in various cellular processes. Positioned within the endoplasmic reticulum (ER) of cells, CERS6 plays a crucial role in catalyzing the synthesis of ceramides by acylating sphingoid bases with fatty acyl-CoA substrates. One of the primary functions of CERS6 is its involvement in the generation of specific ceramide species with distinct acyl chain lengths and saturation levels. Ceramides produced by CERS6 can vary in their fatty acyl composition, which influences their biophysical properties and...



CERS6

SGCD (Sarcoglycan Delta): SGCD is part of the dystrophin-glycoprotein complex, crucial for muscle integrity and function. Mutations in SGCD are associated with limb-girdle muscular dystrophy, a group of genetic disorders that weaken and waste the muscles around the hips and shoulders....



SGCD

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N): PIGN is involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which are used to attach certain proteins to the cell membrane. GPI-anchored proteins play critical roles in cell adhesion, signal transduction, and immune response. Mutations in PIGN can lead to GPI anchor biosynthesis disorders, characterized by a wide range of symptoms including developmental delays, neurological issues, and congenital anomalies, reflecting the importance of GPI-anchored proteins in human physiology....

PIGN

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...

FBXL17

ID4 (Inhibitor Of DNA Binding 4, HLH Protein): ID4 acts as a regulator of gene transcription and is involved in the control of cell differentiation and proliferation. It is part of the ID protein family, which plays roles in the regulation of a wide range of developmental processes by inhibiting the binding of basic helix-loop-helix (bHLH) transcription factors. ID4 is implicated in the pathogenesis of several types of cancer, where it may act as a tumor suppressor or oncogene, depending on the context. The study of ID4 offers insights into cellular differentiation, stem cell biology, and cancer....

FBXO21 (F-Box Protein 21): FBXO21 is part of the F-box protein family, key components in the ubiquitin-proteasome system, which regulates protein degradation. This gene plays a crucial role in various cellular processes, including cell cycle regulation and signal transduction. Dysregulation of FBXO21 can lead to disorders in protein homeostasis, making it significant in the study of diseases where protein turnover is disrupted, such as neurodegenerative diseases and cancers....

FBXO21

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, essential for normal Golgi function and protein trafficking. Mutations in COG1 can disrupt normal Golgi apparatus function and lead to congenital disorders of glycosylation, which are a group of metabolic conditions affecting glycoprotein processing and resulting in various developmental issues....



COG1

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor for fibroblast growth factors and is involved in numerous processes including cell growth, differentiation, and repair. Mutations in FGFR2 are associated with various developmental disorders, including craniosynostosis and skeletal dysplasia, and are implicated in certain types of cancer....

FGFR2

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene encoding a transcription factor from the ETS family. Transcription factors like ETS2 regulate the expression of target genes by binding to specific DNA sequences. ETS2 has been implicated in various cellular processes, including cell proliferation, differentiation, and development. Dysregulation of ETS2 can be associated with cancer and developmental disorders....

ETS2

IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a critical role in stimulating the immune system's activity against infections and tumors by promoting the production of interferon-gamma (IFN-γ) and the activation of T cells and natural killer (NK) cells....

IL12B

CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein involved in cell adhesion and migration. It plays a role in various cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. CD44 is a key receptor for hyaluronic acid and has implications in inflammation and tissue repair....



CD44

HTR2A (5-Hydroxytryptamine Receptor 2A): HTR2A is a receptor for serotonin, a key neurotransmitter in regulating mood, anxiety, and cognition. It's implicated in various psychiatric disorders, including depression, schizophrenia, and anxiety disorders. Variations in HTR2A are often studied in the context of psychopharmacology and psychiatric genetics....

HTR2A

SIM1 (Single-Minded Homolog 1): SIM1 is a transcription factor that plays a crucial role in the development of specific brain regions, including the hypothalamus. It is involved in the regulation of appetite and energy homeostasis. Mutations in SIM1 have been associated with obesity and other metabolic disorders....



SIM1

SH2B3 (SH2B Adaptor Protein 3): SH2B3, also known as LNK, is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a crucial role in maintaining hematopoietic stem cell homeostasis and regulating immune responses. SH2B3 mutations are associated with a variety of hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, underscoring its importance in blood cell development and immune regulation....



SH2B3

COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is part of the COG complex, which is crucial for normal Golgi function and vesicular trafficking. It's involved in the maintenance of Golgi structure and the proper glycosylation of proteins, a critical post-translational modification process. Mutations in COG6 can lead to congenital disorders of glycosylation, which are characterized by a wide range of clinical symptoms, including developmental delay and neurological issues....



COG6

CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a crucial receptor in the immune system, guiding the migration of T cells and dendritic cells to lymphoid tissues, where immune responses are coordinated. This receptor's interaction with its ligands, CCL19 and CCL21, is essential for initiating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been implicated in various autoimmune diseases and cancers, making it a target for immunotherapy and cancer treatment research....



CCR7

PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 encodes a regulatory subunit of the phosphoinositide 3-kinase (PI3K), which is a part of important signaling pathways involved in cell growth, proliferation, and survival. Mutations in this gene are implicated in several cancers and are a target for cancer therapies. It also plays a role in insulin signaling and is associated with diabetes and metabolic syndromes....

PIK3R1

CCDC170 (Coiled-Coil Domain Containing 170): CCDC170 is a gene with a less well-understood function, but it has been implicated in breast cancer, particularly in estrogen receptor-positive breast cancer. It may play a role in cellular structure and organization....



CCDC170

ALPL (Alkaline Phosphatase, Liver/Bone/Kidney): ALPL encodes an enzyme involved in dephosphorylation processes, crucial for bone mineralization. Mutations can lead to hypophosphatasia, a disorder affecting bone development. Its activity is also important in liver function and overall mineral metabolism....

ALPL

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme involved in the initiation of translation, a fundamental process in protein synthesis. It is a member of the DEAD-box RNA helicase family and plays a crucial role in unwinding secondary structures within mRNA molecules, enabling ribosomes to access the initiation codon and begin protein synthesis. One of the primary functions of EIF4A1 is its role in the assembly of the eukaryotic translation initiation complex. In conjunction with other eukaryotic initiation factors, EIF4A1 binds to the 5' untranslated region (UTR) of mRNA and scans along the...

EIF4A1

HMCN1 (Hemicentin 1): HMCN1 is a large extracellular matrix protein involved in cell adhesion and tissue integrity. It plays a significant role in the eye, particularly in the structure of the retina and vitreous body. Mutations in HMCN1 are associated with age-related macular degeneration and other ocular disorders....

HMCN1

EGLN2 (Egl-9 Family Hypoxia-Inducible Factor 2): EGLN2 is a prolyl hydroxylase that regulates the stability of hypoxia-inducible factors (HIFs), which are key mediators in cellular response to low oxygen levels. EGLN2 is involved in cellular adaptation to hypoxia and has implications in cancer biology, as HIFs are often upregulated in tumors. ...

EGLN2

CCND3 (Cyclin D3): Similar to CCND2, CCND3 is a cyclin involved in cell cycle regulation. It also plays a role in the progression from G1 to S phase of the cell cycle. Dysfunctions in CCND3 are associated with certain cancers, particularly lymphomas and leukemias....



CCND3

COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 encodes a component of type XI collagen, important in the structure and integrity of connective tissue. Mutations in this gene are associated with a variety of disorders affecting connective tissue, including certain types of Ehlers-Danlos syndrome and Stickler syndrome....



COL11A1

HLA-B (Human Leukocyte Antigen B): HLA-B is a gene that encodes a major histocompatibility complex (MHC) class I protein. MHC class I proteins are essential for presenting antigens to immune cells and play a central role in the adaptive immune response. HLA-B diversity contributes to an individual's immune system's ability to recognize and respond to pathogens....

HLA-B

FCRL6 (Fc Receptor-Like 6): FCRL6 is involved in the immune system's regulation, expressed on certain T cells and natural killer (NK) cells. It plays a role in modulating immune responses, potentially influencing the activity of these cells in infection, autoimmune diseases, and cancer. The study of FCRL6 aims to uncover novel therapeutic targets for enhancing immune regulation....

FCRL6

IL13 (Interleukin 13): IL13 is a cytokine involved in the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a role in the modulation of antibody production and in the regulation of inflammatory responses, especially in allergic diseases and in the defense against parasitic infections....

IL13

FBH1 (F-Box DNA Helicase 1): FBH1, also known as FBD4, encodes a DNA helicase involved in DNA repair and replication. It plays a role in maintaining genomic stability and preventing DNA damage accumulation. Dysfunctions in FBH1 can lead to genomic instability, a hallmark of cancer, making it important in cancer biology and the study of DNA repair mechanisms....

FBH1 (FBD4)

PDZD2 (PDZ Domain Containing 2): PDZD2 is a multi-PDZ domain protein involved in the organization of protein complexes at the cell membrane, playing a role in signal transduction and cellular communication. It is implicated in various cellular functions, including synaptic signaling in neurons. Dysregulation of PDZD2 may be linked to neurological disorders....

PDZD2

FANCI (FA Complementation Group I): FANCI is part of the Fanconi anemia (FA) pathway, crucial for DNA repair. It plays a role in the response to DNA damage and is important for maintaining genomic stability. Mutations in FANCI can cause Fanconi anemia, a disorder characterized by bone marrow failure, cancer susceptibility, and developmental abnormalities....

FANCI

CCDC158 (Coiled-Coil Domain Containing 158): CCDC158 is a gene encoding a protein with coiled-coil domains. Proteins with coiled-coil domains often participate in protein-protein interactions and may play roles in cellular structural organization or signaling pathways....



CCDC158

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...



CLPTM1

SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is involved in epigenetic regulation as it encodes an enzyme responsible for methylation of histone proteins. This methylation is crucial for regulating gene expression. Dysregulation of SETD7 activity is associated with various pathological conditions, including cancer and cardiovascular diseases....



SETD7

FAR1 (Fatty Acyl-CoA Reductase 1): FAR1 is involved in the synthesis of fatty alcohols from fatty acyl-CoA substrates, a key step in the production of wax esters and other complex lipids. These lipids are essential components of cell membranes and are involved in protecting cells against environmental stress. FAR1's role in lipid metabolism has implications for skin barrier function, lipid storage diseases, and the development of biofuels and industrial chemicals....

FAR1

FCHO2 (FCH Domain Only 2): FCHO2 is involved in the process of clathrin-mediated endocytosis, a key mechanism for internalizing substances from the cell surface. It plays a role in vesicle formation and trafficking within cells. Dysregulation of FCHO2 can affect cellular uptake processes and has potential implications in various cellular dysfunctions....

FCHO2

COL2A1 (Collagen Type II Alpha 1 Chain): COL2A1 encodes type II collagen, a major component of cartilage. Mutations in COL2A1 are associated with a variety of skeletal disorders, including osteoarthritis and various forms of chondrodysplasia....



COL2A1

CCND1 (Cyclin D1): CCND1 encodes cyclin D1, a critical protein involved in cell cycle regulation. Cyclins, including cyclin D1, orchestrate the progression of the cell cycle, and CCND1 is particularly important for driving cell division and proliferation. Dysregulation of CCND1 is frequently implicated in various cancers, making it a noteworthy oncogene....



CCND1

CNDP1 (Carnosine Dipeptidase 1): CNDP1 encodes an enzyme that is involved in the metabolism of carnosine, a dipeptide that may have antioxidant properties. This enzyme's activity is particularly significant in the context of diabetes, where it's believed to play a role in preventing the development of diabetic nephropathy. Understanding CNDP1's function is crucial for developing strategies to combat diabetic complications....



CNDP1

PEAK1 (Pseudopodium-Enriched Atypical Kinase 1): PEAK1 is a gene involved in cell signaling and cytoskeletal dynamics. It plays a significant role in cell migration, adhesion, and invasion. Dysregulation of PEAK1 has been associated with cancer progression and metastasis, as it promotes tumor cell mobility and invasion into surrounding tissues. ...

PEAK1

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is involved in the translation process of protein synthesis, specifically in attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations in FARSA or dysregulation of its activity can lead to errors in protein synthesis, potentially causing a range of cellular dysfunctions and contributing to disease processes....

MROH8

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