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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

TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. TEF plays a key role in regulating the circadian rhythm and controlling the expression of clock-dependent genes. It is essential for maintaining daily physiological cycles, including metabolism and hormone secretion. Dysregulation of TEF can affect circadian rhythm-related disorders and metabolic health, highlighting its importance in synchronizing biological processes with the environmental light-dark cycle.


ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilization and inflammation regulation. It plays an important role in tissue remodeling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.

ITIH1

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

LRTM1

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a key role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.


CNTN2

ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for RNA-specific adenosine deamination. This enzyme catalyzes the conversion of adenosine to inosine in RNA molecules, influencing RNA stability, function, and regulation. ADO plays a key role in RNA editing, contributing to the diversity and functionality of RNA molecules.

ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule that plays a key role in leukocyte migration and immune system function. It is essential for the immune system to effectively reach and respond to sites of inflammation. Dysregulation of ITGA4 can contribute to autoimmune disorders and affect the efficiency of immune responses.

ITGA4

PRSS3 (Protease, Serine 3): PRSS3 is an enzyme, also known as mesotrypsin, that reflects the activity of a serine protease involved in protein digestion and the breakdown of extracellular matrix components. It plays roles in pancreatic function and has been studied in cancer, as abnormal PRSS3 expression or activity may contribute to tumor invasion and metastasis.

PRSS3

HCN4 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is a vital protein that forms part of the cardiac pacemaker channels responsible for controlling heart rhythm. It plays a key role in generating and regulating the pacemaker current, which influences heart rate and cardiac output. Mutations in HCN4 are linked to various cardiac arrhythmias, such as bradycardia and heart block, making it an important gene for understanding heart function and related disorders.

HCN4

H3C12 (Histone Cluster 3, H3c12) is a gene that encodes a histone protein, which is essential for DNA packaging within chromosomes. Histones play a key role in regulating gene expression and maintaining chromosome structure. Changes in histone genes like H3C12 can affect cell function and have been linked to the development of various cancers.

H3C12

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that belongs to the large olfactory receptor family, which is responsible for the sense of smell. These receptors detect volatile odor molecules and are highly diverse, enabling the perception of many different scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a key role in odor detection and signal transmission to the brain. Research on OR2M3 and related receptors helps deepen our understanding of smell and has potential applications in flavor science and sensory biology.

OR2M3

LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a vital role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule mainly expressed in the central nervous system. It plays a key role in neuronal growth, differentiation, and synaptic plasticity, supporting the formation and maintenance of neuronal networks. NEGR1 facilitates cell-cell interactions important for communication between neurons and neural tissue structure. Its role in neurodevelopment links it to brain function, and dysregulation or mutations in NEGR1 have been associated with neurodevelopmental disorders and other conditions.

NEGR1

BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in regulating the circadian rhythm. It plays a key role in controlling the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can affect circadian rhythms and sleep patterns.



BHLHE40

PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a key role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a central player in managing the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and addressing obesity.



PRDM16

NFIA (Nuclear Factor I A) is a transcription factor that plays key roles in regulating gene expression, cellular differentiation, and development. It is primarily located in the nucleus and belongs to the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in controlling transcription. NFIA functions by binding to specific DNA sequences called NFIA recognition elements in gene promoters, influencing gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NFIA

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



CD44

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a key role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping maintain a balance between cell growth and maturation. Dysregulation of GFI1B is associated with blood disorders such as anemia and thrombocytopenia, and it also contributes to leukemia development. Its function is essential for maintaining hematopoietic cell balance and highlights the complexity of blood cell production.

GFI1B

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor expressed on the surface of macrophages that plays a role in the immune system’s response to pathogens and particulate matter. It is involved in recognizing and clearing bacteria and environmental particles, contributing to innate immunity and the regulation of inflammation.

MARCO

PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene involved in phospholipid metabolism and signaling pathways. Phospholipids are key components of cell membranes and participate in various cellular functions such as signaling and membrane dynamics. PLPPR4 may help regulate specific phospholipid levels, potentially affecting cell function and membrane properties.

PLPPR4

GP2 (Glycoprotein 2): GP2 is a gene that encodes a membrane-bound protein mainly found in the pancreas and involved in immune responses within the gastrointestinal tract. It plays a role in binding and aggregating bacteria, helping to protect the gut from microbial invasion. Changes in GP2 are studied for their potential links to pancreatic disorders and inflammatory bowel diseases.

PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can result in congenital spinal and skeletal malformations.

PAX1

IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor essential for the development and function of immune cells, particularly dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Alterations in IRF8 can affect immune cell differentiation and overall immune function.

IRF8

NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that helps protect cells from oxidative stress by converting quinones into less reactive hydroquinones. This process reduces the formation of harmful reactive oxygen species and supports cellular redox balance. Variations in the NQO1 gene have been associated with cancer risk and increased sensitivity to certain toxins, highlighting its role in detoxification and cellular defense.


NQO1

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a key role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the proper secretion and processing of proteins, which supports important cellular functions such as cell signaling, metabolism, and structural maintenance. BET1L’s function in this transport pathway is vital for normal cellular operations and maintaining cellular homeostasis.



BET1L

CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signaling. Calmodulin interacts with various target proteins, regulating their activity based on changes in intracellular calcium levels. CALM1 is essential for many cellular processes, including muscle contraction, neurotransmitter release, and cell growth.



CALM1

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CD40

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in cellular energy regulation. It plays a role in sensing cellular energy status and activating pathways that help restore energy balance.

PRKAG2

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases.



BRSK2

SUOX (Sulfite Oxidase): SUOX encodes an enzyme essential for the metabolism of sulfur-containing amino acids. It catalyzes the final step in breaking down cysteine and methionine by converting sulfite into sulfate, which is then excreted in the urine. Proper SUOX activity prevents sulfite buildup, which can cause neurological damage and physical abnormalities known as sulfite oxidase deficiency, underscoring the enzyme’s critical role in amino acid metabolism and neurotoxicity prevention.



SUOX

OR2B6 is a gene that encodes a protein belonging to the olfactory receptor (OR) family, which is involved in detecting and recognizing odor molecules. These receptors are located on the surface of olfactory sensory neurons in the nasal cavity and play a key role in initiating olfactory signal transduction. OR2B6 specifically binds to certain odor molecules, triggering signals that are ultimately transmitted to the brain for odor perception.

OR2B6

CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are associated with catecholaminergic polymorphic ventricular tachycardia, a condition characterized by irregular heartbeats triggered by physical activity or stress.



CASQ2

CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a critical role in the immune response, including the development of T cell memory. CD28 signaling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.

CD28

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to create new nucleotides. This role in nucleotide metabolism suggests it is important for cell proliferation and DNA repair. Changes in this pathway can impact cellular energy balance and genomic stability, with potential effects on metabolic health and DNA damage response.

PRTFDC1

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a key role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring proper localization and function of proteins within the mitochondria. By supporting these processes, SAMM50 is crucial for cellular energy production and overall mitochondrial function.

SAMM50

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neurodegenerative diseases and cancer, underscoring its importance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumor suppressor gene that produces two proteins, p16INK4A and p14ARF, which are involved in regulating the cell cycle and preventing tumor development. Mutations in CDKN2A are linked to a higher risk of several cancers, including melanoma and pancreatic cancer.



CDKN2A

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein involved in stabilizing and connecting microtubules and actin filaments. It plays an important role in cell motility, neuronal development, and cellular signaling. Dysfunction in MACF1 is associated with developmental disorders and may contribute to cancer metastasis.

MACF1

UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, an essential part of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is critical for protein synthesis. Dysfunction in UTP20 can impact cell growth and proliferation, with potential links to developmental disorders and cancer.




UTP20

CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a key receptor in the immune system that guides the migration of T cells and dendritic cells to lymphoid tissues. Its interaction with the ligands CCL19 and CCL21 is essential for coordinating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been linked to autoimmune diseases and cancers, making it an important target in immunotherapy and cancer treatment research.


CCR7

TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signaling pathway, which plays an important role in cell growth and development. Variants in this gene have been strongly linked to an increased risk of type 2 diabetes, likely through their impact on insulin secretion and glucose metabolism. Understanding TCF7L2 is essential for uncovering the genetic basis of diabetes and advancing potential treatments.



TCF7L2

ITGB8 (Integrin Subunit Beta 8): ITGB8 is a protein involved in cell adhesion and signal transduction, mediating interactions between cells and the extracellular matrix. It plays a key role in tissue remodeling, angiogenesis, and brain development by facilitating the activation of transforming growth factor-beta (TGF-beta), a cytokine that regulates cell proliferation, differentiation, and other critical functions. Dysregulation of ITGB8 has been linked to cancer progression, as well as various vascular and neurological disorders, highlighting its essential role in cellular communication and disease.

ITGB8

FBXO24 (F-Box Protein 24): FBXO24 is a gene that encodes a protein belonging to the F-box family, which is involved in protein degradation through the ubiquitin-proteasome system. It plays a role in cell cycle regulation and protein turnover, although its specific physiological functions and links to diseases are still being investigated.

FBXO24

PLTP (Phospholipid Transfer Protein): PLTP is a protein that plays a key role in lipid metabolism and transport in the body. It facilitates the transfer of phospholipids between different lipoprotein particles, helping to regulate their composition and function. PLTP is important for maintaining plasma lipoprotein balance, influencing the size, composition, and functionality of HDL and LDL particles, and supporting processes such as reverse cholesterol transport.

PLTP

PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a key role in the fusion of autophagosomes with lysosomes, an important step in the autophagic process. Mutations in PLEKHM1 have been linked to osteopetrosis, a rare bone disorder.

PLEKHM1

UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in responding to cellular stress and regulating protein turnover, processes that are essential for maintaining cellular health and preventing disease.

UBXN2A

ALPL (Alkaline Phosphatase, Liver/Bone/Kidney): ALPL encodes an enzyme involved in dephosphorylation processes that are essential for bone mineralization. This enzyme plays a key role in bone development, liver function, and overall mineral metabolism. Mutations in ALPL can lead to hypophosphatasia, a disorder that affects bone formation.

ALPL

PHACTR4 (Phosphatase and Actin Regulator 4): PHACTR4 is a multifunctional protein that plays a key role in regulating cellular signaling pathways and cytoskeletal dynamics. It functions through interactions with protein phosphatase 1 (PP1) and actin filaments. PHACTR4 is involved in important cellular processes such as cell cycle progression, cell migration, and neuronal development. By modulating PP1 activity, it helps regulate various cellular functions including gene expression and metabolism. Additionally, PHACTR4 has been linked to cardiovascular diseases, especially coronary artery disease, where it impacts endothelial function and vascular remodeling.




PHACTR4

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



CCDC170

NRDE2 (NRDE-2, Necessary For RNA Interference, Domain Containing): NRDE2 is a gene believed to be involved in RNA interference, a process that regulates gene expression. It may play a role in post-transcriptional gene regulation, influencing various cellular functions. While less characterized, NRDE2 is thought to contribute to important cellular processes.

NRDE2

ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor that reflects the body’s regulation of chemokine activity. Formerly known as DARC (Duffy Antigen Receptor for Chemokines), ACKR1 acts as a decoy receptor, binding chemokines without triggering intracellular signaling. By sequestering chemokines, it helps modulate immune responses and control inflammation, protecting tissues from excessive damage. Variations in ACKR1 are linked to differences in infection susceptibility and the severity of inflammatory diseases.

ACKR1

MLXIPL (MLX-Interacting Protein-Like): MLXIPL is a gene that encodes a protein involved in glucose metabolism and regulation of gene expression. It plays a role in maintaining glucose homeostasis and lipid metabolism. Mutations in MLXIPL may influence carbohydrate metabolism and contribute to related disorders.

MLXIPL

RHBDD3 (Rhomboid 5 Homolog 3): RHBDD3 is a gene that encodes a protein belonging to the rhomboid family, which is involved in cellular processes such as signal transduction and protein trafficking. While its specific functions are still being explored, RHBDD3 may play a role in cell signaling and cancer biology.

RHBDD3

STIM1 (Stromal Interaction Molecule 1): STIM1 is a protein that acts as a key regulator of calcium (Ca²⁺) entry into cells. It plays a critical role in calcium signaling and maintaining cellular calcium balance. STIM1 is essential for processes such as muscle contraction, gene expression, and cell growth, and mutations in STIM1 are linked to immune system dysfunction and muscle-related disorders.


STIM1

PRSS37 (Protease, Serine 37): PRSS37 is a gene that encodes a serine protease enzyme involved in reproductive physiology. While its precise function is still being studied, it is believed to play a key role in sperm maturation and male fertility. Mutations in PRSS37 have been linked to male infertility, highlighting its importance in reproductive health research.


PRSS37

KIT (also known as CD117 antigen):KIT is a gene that encodes a protein functioning as a receptor tyrosine kinase, essential for cell growth, differentiation, and survival. It plays a crucial role in the development and function of various cell types, including melanocytes, germ cells, and hematopoietic cells. Understanding KIT signaling pathways may offer insights into targeted treatments for cancers and other diseases involving abnormal KIT activity.

RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6): RAPGEF6 is a protein that plays a key role in signal transduction pathways, regulating cell adhesion, migration, and growth. It functions as a guanine nucleotide exchange factor for Rap proteins, controlling their activity in response to extracellular signals. Dysregulation of RAPGEF6 has been linked to cancer progression and metastasis, emphasizing its importance in cellular signaling and the regulation of cell dynamics.

RAPGEF6

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 is a gene that encodes an enzyme involved in phosphoinositide metabolism. This enzyme catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a critical signaling molecule that regulates cellular processes such as membrane trafficking and cytoskeletal organization.




PIP5KL1

UPP1 (Uridine Phosphorylase 1): UPP1 is an enzyme involved in the pyrimidine salvage pathway, converting uridine into uracil and ribose-1-phosphate. It plays a critical role in nucleotide metabolism, supporting DNA and RNA synthesis and other cellular processes. Its activity is particularly important in chemotherapy, as it influences the activation and effectiveness of certain anticancer drugs.

UPP1

S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for the lipid signaling molecule sphingosine-1-phosphate (S1P). It is primarily expressed in hematopoietic cells and plays a key role in regulating immune cell migration, inflammation, angiogenesis, and endothelial barrier integrity. Alterations in S1PR4 signaling can impact immune responses and contribute to inflammatory and immune-related disorders.

S1PR4

PRG4 (Proteoglycan 4): PRG4 is a protein, also known as lubricin, that plays a vital role in joint health by maintaining lubrication and cartilage integrity. It helps reduce friction in joints and protects cartilage surfaces from wear and damage. Mutations or deficiencies in PRG4 can contribute to joint disorders such as camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome and are associated with the development of osteoarthritis.

PRG4

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and plays a role in various physiological processes, including neuronal development and the regulation of mood and behavior. It has been associated with mental health conditions such as depression and anxiety, highlighting its significance in brain function and emotional regulation.

GPR158

JCAD (Junctional Cadherin 5 Associated): JCAD is a protein that plays a key role in cell adhesion and vascular development. It is important for endothelial cell function and maintaining vascular integrity. Alterations in JCAD have been linked to cardiovascular diseases and may also influence tumor angiogenesis, highlighting its significance in both cardiovascular research and oncology.

JCAD

MDFIC (MyoD Family Inhibitor Domain Containing): MDFIC is a gene that encodes a protein involved in regulating gene expression, particularly in muscle development. It inhibits the MyoD family of transcription factors, which are essential for muscle differentiation, and its dysregulation may affect muscle growth and repair.

MDFIC

MMP15 (Matrix Metallopeptidase 15): MMP15 is a gene that encodes an enzyme belonging to the matrix metalloproteinase family, which is involved in the breakdown and remodeling of the extracellular matrix (ECM). This enzyme plays a role in physiological processes such as wound healing, angiogenesis, and embryonic development by regulating ECM composition. Proper MMP15 activity is essential for tissue repair and remodeling, while its dysregulation may contribute to conditions like cancer progression, fibrosis, and inflammatory diseases.

MMP15

RRAS2 (RAS Related 2): RRAS2 is a member of the RAS family of genes, involved in regulating cell growth and differentiation. It plays a key role in signal transduction pathways and is important for various cellular processes, including cell adhesion and migration.

RRAS2

PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is a gene that encodes a protein component of the 26S proteasome, which is responsible for degrading ubiquitinated proteins. It plays a key role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins and contributes to the regulation of cellular processes such as the cell cycle and stress responses.

PSMC1

RASGRF2 (RAS Protein-Specific Guanine Nucleotide-Releasing Factor 2): RASGRF2 is a guanine nucleotide exchange factor that activates RAS proteins, playing a key role in signal transduction. It's involved in synaptic plasticity and memory formation in the brain. Dysregulation of RASGRF2 has been implicated in the development of certain types of cancer and in cognitive functions.

RASGRF2

MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that plays a key role in early embryonic development and organ formation. It is involved in processes such as limb development and hematopoiesis. MEIS1 has also been linked to restless legs syndrome (RLS) and is associated with various neurological and developmental disorders.


MEIS1

TENM4 (Teneurin Transmembrane Protein 4): TENM4 is a member of the teneurin family, involved in neuronal development and function. It plays a key role in cell-cell adhesion and communication within the nervous system and has been associated with developmental processes and neurological disorders.

TENM4

MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5): MAP2K5 is an enzyme that is part of the mitogen-activated protein kinase (MAPK) signaling pathway. It plays a key role in cellular responses to growth factors, stress, and cytokines. MAP2K5 is involved in processes such as cell growth, differentiation, and apoptosis, and its dysregulation can contribute to cancer and other diseases.

MAP2K5

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1 is a scaffold protein that plays a key role in regulating innate immunity and inflammatory responses. Also known as SINTBAD, it interacts with TBK1 and IKKε kinases, contributing to antiviral defense and the production of type I interferons. TBKBP1’s involvement in modulating immune signaling pathways underscores its importance in immune function and its potential as a therapeutic target in inflammatory and autoimmune conditions.



TBKBP1

TTC28 is a gene that encodes a protein containing tetratricopeptide repeat (TPR) domains, which facilitate protein-protein interactions. While its specific functions are not fully characterized, TTC28 may play a role in regulating transcription, the cell cycle, and protein transport. Ongoing research is investigating its potential involvement in cellular pathways and disease processes.

TTC28

LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is a gene involved in cell adhesion and communication. It plays a key role in maintaining the integrity of cell-to-cell interactions and signaling, and is recognized for its potential tumor suppressor activity, particularly in gastric cancer.

LRRC3B

TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is a member of the TBC1 domain family, known for their role in intracellular trafficking and signaling. This gene is involved in regulating membrane trafficking and plays a part in cellular transport processes. Studying TBC1D8B can provide insights into cellular homeostasis and diseases associated with intracellular transport dysfunction.



TBC1D8B

TNFSF18 (TNF Superfamily Member 18): TNFSF18 is a molecule that reflects the regulation of immune responses in the body. Also known as GITR ligand, it binds to GITR on T cells and regulatory T cells, promoting effector T cell activity while suppressing regulatory T cell function. This dual role makes TNFSF18 a key target in cancer immunotherapy and autoimmune disease treatment.

TNFSF18

TNFRSF1A (Tumor Necrosis Factor Receptor Superfamily Member 1A): TNFRSF1A is a gene that encodes a receptor in the TNF receptor superfamily, which plays a key role in mediating cellular responses to tumor necrosis factor-alpha (TNF-α). This receptor is involved in regulating inflammation, immune responses, apoptosis, and cell proliferation. By binding TNF-α, TNFRSF1A can trigger signaling pathways that influence cell survival, death, and inflammatory processes, highlighting its importance in immune system regulation and disease mechanisms.

TNFRSF1A

TNKS (Tankyrase): TNKS is a protein-coding gene that reflects the activity of a poly(ADP-ribose) polymerase involved in several critical cellular processes, including regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a key role in cell proliferation and survival and has been studied for its potential involvement in cancer therapy due to its influence on tumor growth.

TNKS

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B is a protein that regulates the activity of protein phosphatase 1 (PP1), an enzyme involved in glycogen metabolism. It plays a key role in controlling glycogen storage in the liver and contributes to maintaining glucose homeostasis, with implications for metabolic health and disorders.

PPP1R3B

SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene that encodes a protein involved in lipid metabolism and mitochondrial function. It contributes to the synthesis of cardiolipin, a specialized phospholipid critical for mitochondrial membrane integrity and activity. Mutations in SERAC1 can impair cardiolipin production, potentially leading to mitochondrial dysfunction and related disorders.

SERAC1

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a key role in regulating energy balance, including appetite and metabolism. Proper LEPR function is essential for the body to respond to leptin signals, while mutations in LEPR can cause leptin resistance, a condition commonly associated with obesity.

LEPR

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is essential for the biosynthesis of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulphate donor in various sulphation reactions. It plays an important role in the metabolism of hormones, drugs, and other molecules. Mutations in PAPSS2 can lead to disorders such as spondyloepimetaphyseal dysplasia, highlighting its role in skeletal development.

PAPSS2

LPIN2 (Lipin 2): LPIN2 is essential for lipid metabolism and energy production, playing a key role in converting phosphatidic acid into diacylglycerol, a critical step in the synthesis of triglycerides and phospholipids. It also participates in regulating gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are linked to Majeed syndrome, which is characterised by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anaemia, underscoring its significance in both metabolic functions and immune regulation.

LPIN2

NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a key role in the immune response. It is activated in T cells in response to signals that increase intracellular calcium levels, leading to its translocation to the nucleus where it can influence the expression of genes involved in T cell activation and differentiation. NFATC2 is essential for the development of the immune system and the regulation of immune responses. Dysregulation of NFATC2 has been associated with autoimmune diseases and immunodeficiency.

NFATC2

LYZ (Lysozyme): Lysozyme (LYZ) is an enzyme that plays a key role in the innate immune system by breaking down the peptidoglycan layer of bacterial cell walls, leading to bacterial lysis. It is abundant in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. Beyond its antibacterial activity, LYZ is also involved in modulating inflammation and has potential therapeutic applications in treating infections and inflammatory conditions.

PRKCE (Protein Kinase C Epsilon):PRKCEis a gene that encodes an enzyme belonging to the protein kinase C (PKC) family. This isoform plays key roles in cellular processes such as cell proliferation, differentiation, apoptosis, and signal transduction. Predominantly located in the cytoplasm, PRKCE regulates these processes by phosphorylating target proteins and mediating the transmission of extracellular signals to intracellular pathways.

PRKCE

TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signaling and plays a key role in cell adhesion, migration, and signaling. It contributes to the formation and stabilization of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.

TLN2

LGALS14 (Galectin 14): LGALS14 is a member of the galectin family, a group of proteins that bind beta-galactoside sugars and help regulate cell-cell and cell-matrix interactions. Galectin 14 is primarily expressed in the placenta and contributes to immune response regulation and fetal-maternal tolerance. Its proper expression and function are essential for pregnancy success, and abnormalities in LGALS14 have been linked to pregnancy complications, including pre-eclampsia and intrauterine growth restriction, underscoring its importance in reproductive health.

LGALS14

LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose in milk. Variants in this gene can affect the body’s ability to break down lactose, potentially leading to lactose intolerance and related gastrointestinal symptoms.

NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a key role in regulating cellular metabolism and energy balance. Its activity has been associated with obesity, metabolic disorders, and cancer, making NNMT an important target for therapeutic interventions.


NNMT

CDKL2 (Cyclin-Dependent Kinase-Like 2): CDKL2 is a gene that encodes a protein involved in neuronal development and function. It belongs to the cyclin-dependent kinase family and is thought to participate in signal transduction and cell cycle regulation. Its activity in neurons suggests a potential role in neurodevelopmental processes and neurological disorders.

CDKL2

LRAT (Lecithin Retinol Acyltransferase): LRAT is an enzyme that plays a key role in vitamin A metabolism by catalyzing the conversion of all-trans-retinol into all-trans-retinyl esters, the storage form of vitamin A. This process is essential for vision, immune function, and cellular differentiation. Deficiencies or mutations in LRAT can lead to retinal disorders and weakened immune responses, highlighting its importance in maintaining vitamin A balance and overall health.

LRAT

RHOBTB2 (Rho-related BTB domain-containing protein 2): RHOBTB2 is a gene that encodes a protein belonging to the Rho family of small GTPases, which are involved in regulating cytoskeletal dynamics, cell migration, and cell cycle progression. The additional BTB domain suggests roles in protein-protein interactions and regulatory functions beyond classical Rho signaling. RHOBTB2 may influence cell proliferation, apoptosis, intracellular trafficking, mitochondrial function, and responses to oxidative stress.

RHOBTB2

NELL1 (NEL Like 1): is a protein involved in bone and cartilage growth and regeneration. It plays a key role in skeletal development and has been linked to osteochondral diseases and bone healing. Research on NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries.

NELL1

SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a protein that is a key part of the COPII complex, which facilitates the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. It is essential for proper protein secretion and the maintenance of organelle integrity. Mutations in SEC31B can impair protein transport and contribute to ER stress-related disorders.

SEC31B

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a gene that encodes a serine/threonine-specific protein kinase, which acts as a key effector in cyclic guanosine monophosphate (cGMP) signaling. It plays an important role in regulating vascular smooth muscle tone, platelet function, and cardiac contractility, thereby contributing to cardiovascular homeostasis. By phosphorylating target proteins, PRKG1 influences processes such as smooth muscle relaxation, protection against myocardial damage, and inhibition of platelet aggregation, and its activity is linked to cardiovascular health and disease.

PRKG1

MTX1 (Metaxin 1): MTX1 is a gene that encodes a protein involved in mitochondrial transport and organization. This protein helps maintain proper mitochondrial positioning and function, which is essential for energy production and overall cellular processes.

MTX1

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme essential for regulating cellular processes through dephosphorylation. It plays critical roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been linked to various diseases, including heart conditions and certain cancers.




PPP1CB

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme involved in the breakdown of N-linked glycoproteins. It catalyzes the hydrolysis of beta-linked mannose residues, playing a key role in glycoprotein degradation. Deficiencies in MANBA activity can lead to lysosomal storage disorders, resulting in the accumulation of undegraded glycoproteins and impairing cellular function.

MANBA

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that reflects its role in neural development. It encodes a protein belonging to the leucine-rich repeat family, which is important for protein-protein interactions and the formation and maintenance of neural connections. LRRN1 is significant for understanding neural development and may be implicated in neurodevelopmental disorders.

LRRN1

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a key process in gene expression. It plays an important role in regulating alternative splicing, which affects the variety of proteins that can be produced from a single gene. Alterations in RBM17 may have implications in diseases such as cancer, where disrupted splicing can influence cell growth and survival.

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