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The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.

<p>The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.</p>

DNA Immunity & Inflammation Test

RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region): RBPJ is a key transcription factor in the Notch signaling pathway, which is crucial for cell fate determination, differentiation, and development. Dysregulation of RBPJ and the Notch signaling pathway can lead to various diseases, including several forms of cancer and developmental disorders. RBPJ's role in cell differentiation and tissue development makes it a significant gene in both developmental biology and disease pathogenesis....

RBPJ

SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is crucial for the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It's involved in lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can influence cholesterol levels and have been associated with the risk of cardiovascular diseases....




SCARB1

LRFN5 (Leucine Rich Repeat and Fibronectin Type III Domain Containing 5): LRFN5 is a member of the LRFN family of proteins, involved in neuronal development and synaptic function. It may play a role in the formation and maintenance of neural circuits, and dysfunctions in LRFN5 are potential contributors to neurodevelopmental disorders....

LRFN5

MTRR (Methionine Synthase Reductase): MTRR is crucial for regenerating methylcobalamin, ensuring the continuous function of MTR in homocysteine metabolism. It plays a key role in maintaining adequate methionine levels and supports normal DNA synthesis. MTRR mutations are associated with homocystinuria, which can lead to developmental and neurological issues. Insights into MTRR function offer potential for genetic disorder therapies....



MTRR

SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is part of the SCAMP family, involved in membrane trafficking processes. It plays a role in the regulation of membrane recycling and exocytosis, particularly in neurons. SCAMP5's function is important for neurotransmitter release and neuronal communication, and it may have implications in neurological disorders....




SCAMP5

PREP (Prolyl Endopeptidase): PREP is a serine protease involved in the degradation of proline-containing peptides, playing a role in the metabolism of neuropeptides and peptide hormones. It is implicated in the modulation of cognitive processes and the inflammatory response. Alterations in PREP activity have been linked to neurological disorders, including Alzheimer's disease, suggesting its role in neurodegeneration and cognitive function....

PREP

RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a component of the mitochondrial ribosome, involved in mitochondrial protein synthesis. This protein synthesis is crucial for the production of components of the mitochondrial respiratory chain, essential for cellular energy production. Dysfunctions in MRPL39 can lead to mitochondrial disorders, affecting energy metabolism in cells. The role of MRPL39 in mitochondrial function is critical, as mitochondrial dysfunctions are associated with a wide range of diseases, including neurodegenerative disorders, muscle diseases, and metabolic syndromes....



MRPL39

LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein with a domain similar to lecithin retinol acyltransferase (LRAT), which is involved in vitamin A metabolism. The specific functions of LRATD1 and its role in vitamin A metabolism are areas of ongoing research....

LRATD1

TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): Also known as TACI, TNFRSF13B is a receptor for cytokines BAFF and APRIL, which are crucial for B cell development and function. Mutations in TNFRSF13B have been associated with common variable immunodeficiency (CVID) and selective IgA deficiency, underscoring its importance in humoral immunity. Research on TNFRSF13B aims to understand its role in immune dysregulation and autoimmune diseases....




TNFRSF13B

TNFSF12, also known as Tumor Necrosis Factor Ligand Superfamily Member 12 or TWEAK (TNF-like weak inducer of apoptosis), is a cytokine belonging to the tumor necrosis factor (TNF) superfamily. It plays diverse roles in inflammation, immunity, tissue homeostasis, and cell death regulation. One of the primary functions of TNFSF12 is its role in modulating immune responses and inflammation. TNFSF12 can act as both a pro-inflammatory and anti-inflammatory cytokine, depending on the cellular context and signaling pathways involved. It promotes the production of inflammatory cytokines and chemokines, recruits immune cells to sites of inflammation, and stimulates the activation of endothelial cells and...

TNFSF12

TPGS2 (Tocopherol (Alpha) Transfer Protein-Like): TPGS2 is involved in the metabolism and transport of vitamin E within cells. It plays a role in antioxidant defense and cell signaling, and is important for maintaining the integrity of the nervous system and other vitamin E-sensitive pathways in the body....




TPGS2

NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor for neurotensin, a neurotransmitter involved in various central nervous system functions, including analgesia, thermoregulation, and modulation of dopamine signaling. NTSR2's activation by neurotensin influences neural activity and has been implicated in the pathophysiology of psychiatric disorders, making it a potential target for the treatment of schizophrenia, mood disorders, and pain management....



NTSR2

OOSP1 (Oocyte Secreted Protein 1): OOSP1 is predominantly expressed in oocytes and is involved in early embryonic development. It may play a role in the maturation of oocytes and in the regulation of processes during fertilization and early embryogenesis. Its function is crucial for reproductive health and successful embryonic development....



OOSP1

PTER (Phosphotriesterase-related protein): Analogous to MMP15's involvement in extracellular matrix (ECM) remodeling, PTER plays a crucial role in cellular detoxification and metabolism regulation. As a member of the phosphotriesterase-related protein family, PTER is involved in the breakdown of various chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic activity contributes to the detoxification of these harmful substances, thereby protecting cells from chemical damage. Additionally, PTER has been implicated in cellular signaling pathways and metabolic processes, suggesting broader roles beyond detoxification. Dysregulation of PTER expression or activity can have detrimental effects, leading to increased susceptibility to chemical toxicity and metabolic...




PTER

SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is involved in vesicle trafficking, particularly in the transport of secretory proteins. It plays a role in the regulation of vesicle docking and fusion, which is essential for proper cellular function and communication....




SCFD1

POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene associated with postoperative cognitive dysfunction, which is a condition characterized by cognitive decline following surgery. The specific mechanisms and factors contributing to this condition are areas of ongoing research....




POCD5

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): Also known as TRAIL, TNFSF10 is involved in inducing apoptosis in tumor cells. It plays a role in immune surveillance and cancer therapy, as it can selectively induce cell death in cancer cells while sparing normal cells. This gene is a focus in cancer research for its potential therapeutic applications....

TNFSF10

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...



SOAT2

TBX3 (T-Box Transcription Factor 3): TBX3 is a critical transcription factor involved in embryonic development, playing roles in the regulation of organogenesis, including limb, heart, and mammary gland development. Mutations or dysregulation of TBX3 can lead to developmental disorders, such as ulnar-mammary syndrome. TBX3 is also implicated in cancer development, where it can act as a transcriptional repressor to inhibit cell senescence and promote proliferation....



TBX3

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase family, which is involved in the detoxification of aldehydes and ketones. The specific function of AKR1E2 is not fully understood, but members of this family play roles in metabolism and the response to oxidative stress. Research into AKR1E2 could provide insights into metabolic disorders and cellular responses to environmental stressors....




AKR1E2

rs2129588: Similarly, rs2129588 is another SNP. These genetic variations are the most common type of genetic difference among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. For example, an SNP may replace the nucleotide cytosine (C) with the nucleotide thymine (T) in a certain stretch of DNA. rs2129588, like other SNPs, can serve as biological markers, helping scientists locate genes that are associated with disease. They are key in the field of genomics for studies on gene-disease associations, pharmacogenomics, and population genetics....

rs2129588

RBM17 (RNA Binding Motif Protein 17): RBM17 is involved in RNA splicing, a critical process in gene expression. It plays a role in the regulation of alternative splicing, influencing the diversity of proteins that can be produced from a single gene. Alterations in RBM17 have potential implications in various diseases, including cancer, where dysregulation of splicing can affect cell growth and survival....




RBM17

PTPRT (Protein Tyrosine Phosphatase, Receptor Type T): PTPRT is a member of the protein tyrosine phosphatase family, which plays a pivotal role in cell signaling. PTPRT is involved in the regulation of various cellular processes, including cell growth and differentiation. Mutations in PTPRT have been implicated in several cancers, particularly colorectal cancer, due to its role in signal transduction pathways that control cell proliferation....

PTPRT

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

LRRN1

MANBA (Mannosidase Beta): MANBA encodes a lysosomal enzyme that is involved in the degradation of N-linked glycoproteins. It catalyzes the hydrolysis of the beta-linked mannose residues in glycoproteins, playing a crucial role in the glycoprotein degradation pathway. Deficiencies in MANBA activity can lead to lysosomal storage disorders, characterized by the accumulation of undegraded glycoproteins, affecting cellular function and leading to clinical manifestations....

MANBA

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB encodes a catalytic subunit of protein phosphatase 1, a key enzyme in the regulation of cellular processes through dephosphorylation. This enzyme plays a vital role in various cellular functions, including muscle contraction, glycogen metabolism, and cell division. Abnormalities in PPP1CB activity are implicated in several diseases, including cardiac disorders and cancer....




PPP1CB

PTGER4 (Prostaglandin E Receptor 4): PTGER4 is a gene that encodes a receptor for prostaglandin E2 (PGE2), a lipid mediator involved in inflammation and immune responses. PTGER4 activation influences various cellular functions, including immune cell activation and cytokine production. It plays a role in modulating inflammation and has been studied in the context of autoimmune and inflammatory diseases....

PTGER4

MTX1 (Metaxin 1): MTX1 encodes a protein involved in mitochondrial transport and organization. It plays a role in the proper functioning and positioning of mitochondria within cells, which is crucial for energy production and cellular processes....



MTX1

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a serine/threonine-specific protein kinase that plays a crucial role in various cellular processes mediated by cyclic guanosine monophosphate (cGMP). Acting as a key effector of cGMP signaling, PRKG1 is involved in the regulation of vascular smooth muscle tone, platelet function, and cardiac contractility, contributing significantly to cardiovascular homeostasis. Its activation leads to the phosphorylation of target proteins, which in turn modulates cellular functions such as relaxation of smooth muscle cells, protection against myocardial damage, and inhibition of platelet aggregation. PRKG1's activity is implicated in the pathophysiology of cardiovascular diseases, including hypertension and...

PRKG1

SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a component of the COPII complex, which is involved in protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus. It plays a crucial role in the secretion of proteins and the maintenance of cellular organelle integrity. Mutations in SEC31B can disrupt protein transport and lead to ER stress-related disorders....

SEC31B

NELL1 (NEL Like 1): NELL1 is a protein involved in bone and cartilage growth and regeneration. It's significant in skeletal development and has been implicated in osteochondral diseases and in promoting bone healing. The study of NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries....



NELL1

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...




RHOBTB2

LRAT (Lecithin Retinol Acyltransferase): LRAT is essential for the metabolism of vitamin A, catalyzing the esterification of all-trans-retinol into all-trans-retinyl esters, a storage form of vitamin A. This process is crucial for vision, immune function, and cellular differentiation. Deficiencies or mutations in LRAT can lead to retinal diseases and impairments in immune response, emphasizing its role in vitamin A homeostasis and overall health....

LRAT

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



CDKL2

NNMT (Nicotinamide N-Methyltransferase): NNMT encodes an enzyme that methylates nicotinamide (vitamin B3) and is involved in the regulation of cellular metabolism and energy balance. NNMT's activity has been linked to obesity, metabolic disorders, and cancer, making it a target for therapeutic interventions....



NNMT

LCT (Lactase): LCT encodes the enzyme lactase, which is essential for the digestion of lactose in milk. Variants in this gene can lead to lactose intolerance in adults, a condition where the body cannot effectively digest lactose, leading to gastrointestinal symptoms....

LGALS14 (Galectin 14): LGALS14, or galectin 14, is part of the galectin family, proteins that bind beta-galactoside sugars and are involved in modulating cell-cell and cell-matrix interactions. Galectin 14 is expressed predominantly in the placenta and plays a role in immune response regulation and fetal-maternal tolerance. Its expression and function are critical for pregnancy success, and abnormalities in LGALS14 have been associated with pregnancy-related complications, such as pre-eclampsia and intrauterine growth restriction, highlighting its role in reproductive health....

LGALS14

TLN2 (Talin 2): TLN2 encodes the talin 2 protein, which is involved in integrin-mediated signaling pathways and plays a key role in cell adhesion, migration, and signaling. Its importance is underscored in the formation and stabilization of integrin-mediated cell adhesions, with implications in various cellular processes, including immune responses and cancer metastasis....



TLN2

TIAM2, also known as T-lymphoma invasion and metastasis-inducing protein 2, is a critical member of the TIAM family of guanine nucleotide exchange factors (GEFs). Positioned primarily within the cytoplasm of cells, TIAM2 plays a pivotal role in regulating cellular processes, particularly those related to cytoskeletal dynamics, cell migration, and invasion. One of the distinctive features of TIAM2 is its ability to act as a molecular switch for the activation of Rho GTPases, particularly Rac1. Through its GEF activity, TIAM2 catalyzes the exchange of GDP for GTP on Rac1, leading to the activation of downstream signaling pathways involved in actin cytoskeleton rearrangements...



TIAM2

PRKCE, also known as Protein Kinase C Epsilon, is a vital enzyme belonging to the family of protein kinase C (PKC) isoforms. This particular isoform plays a pivotal role in various cellular processes, including cell proliferation, differentiation, apoptosis, and signal transduction. PRKCE is predominantly found in the cytoplasm of cells, where it exerts its regulatory functions by phosphorylating target proteins. One of the distinguishing features of PRKCE is its involvement in signal transduction pathways, where it acts as a crucial mediator in transmitting extracellular signals to intracellular targets. Through its kinase activity, PRKCE modulates the activity of downstream effector proteins, thereby...

PRKCE

SEMA6D (Semaphorin 6D): SEMA6D is a member of the semaphorin family, which is involved in axon guidance and neural development. SEMA6D plays a role in neuronal signaling and migration during development. It has implications in neurodevelopmental disorders and the formation of neural circuits....




SEMA6D

LYZ (Lysozyme): LYZ is an enzyme that plays a key role in the innate immune system by hydrolyzing the peptidoglycan layer of bacterial cell walls, leading to bacterial lysis. It is abundant in a variety of secretions, such as saliva, tears, and milk, and in granules of neutrophils. Beyond its antibacterial properties, LYZ has been studied for its role in modulating inflammation and its potential therapeutic applications in treating infections and inflammatory diseases....

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 crucial 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

SBF2 (SET Binding Factor 2): SBF2 is involved in nerve development and has been linked to Charcot-Marie-Tooth disease, a hereditary neurological disorder that affects peripheral nerves. It plays a role in maintaining the structure and function of peripheral nerves, and mutations in SBF2 lead to nerve degeneration and associated muscle weakness and sensory loss....




SBF2

PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is involved in anchoring acetylcholinesterase to neuronal membranes, playing a key role in the breakdown of the neurotransmitter acetylcholine. It's significant in the regulation of cholinergic neurotransmission and is of interest in studies of neurodegenerative diseases like Alzheimer's....




PRIMA1

LPIN2 (Lipin 2): LPIN2 is crucial for lipid metabolism and energy production, playing a significant role in the conversion of phosphatidic acid to diacylglycerol, a key step in triglyceride and phospholipid synthesis. It's also involved in the regulation of gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are associated with Majeed syndrome, characterized by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its importance in both metabolic processes and immune regulation....

LPIN2

ORMDO3 (Oligoribonuclease, mitochondrial): Much like MMP15's role in regulating the extracellular matrix (ECM) and tissue integrity, ORMDO3 plays a critical role in maintaining cellular homeostasis within the mitochondria, the powerhouse of the cell. ORMDO3 is an essential enzyme involved in RNA degradation, specifically targeting short RNA fragments within the mitochondria. By facilitating the turnover of mitochondrial RNA molecules, ORMDO3 contributes to the regulation of mitochondrial gene expression and ensures proper mitochondrial function. Dysfunction or dysregulation of ORMDO3 activity can lead to mitochondrial RNA accumulation, impairing mitochondrial function and cellular health. Consequently, abnormalities in ORMDO3 have been associated with various mitochondrial...



ORMDO3

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



PAPSS2

LEPR (Leptin Receptor): LEPR is the receptor for the hormone leptin. It's critical in regulating energy intake and expenditure, including appetite and metabolism. Mutations in LEPR can lead to leptin resistance, a condition often observed in obesity, where the body does not adequately respond to leptin signals....

LEPR

IL6 (Interleukin 6): IL6, a cytokine with an influential role in the immune response and inflammation, commands the body's defenses in the face of infection and injury. This sentinel of the immune system regulates the orchestration of inflammation and the deployment of immune cells to combat invaders. Researchers in the realm of immunology delve deep into IL6's intricate web of interactions, seeking to decipher its contributions to both health and inflammatory diseases....

THADA (Thyroid Adenoma Associated): THADA is associated with thyroid adenomas, a type of thyroid tumor. It may play a role in thyroid tumorigenesis and has been implicated in thyroid cancer development, making it a target for further investigation in the context of thyroid diseases....



THADA

TNF (Tumor Necrosis Factor): TNF is a cytokine involved in the immune response and inflammation. It plays a role in regulating the immune system's response to infection and tissue damage. Dysregulation of TNF is implicated in autoimmune diseases and chronic inflammatory conditions....

LY6K (Lymphocyte Antigen 6 Complex, Locus K): LY6K is a gene encoding a member of the LY6/uPAR (lymphocyte antigen 6/urokinase-type plasminogen activator receptor) protein family. The precise function of LY6K is still under investigation, but it may be involved in immune responses and cell signaling....

LY6K

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is part of the START domain family, involved in the transport and distribution of lipids within cells. It plays a role in regulating lipid metabolism and homeostasis, particularly in the liver and gastrointestinal tract. Although the specific functions of STARD5 are still being explored, its role in lipid transport suggests implications for metabolic disorders and diseases involving lipid dysregulation....



STARD5

ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a subtype of the alpha-1-adrenergic receptors, involved in the physiological responses to adrenaline and noradrenaline, particularly in smooth muscle contraction. It plays a role in cardiovascular function, including blood pressure regulation and vascular tone. Abnormalities in ADRA1A can have implications in cardiovascular diseases and disorders of the autonomic nervous system....

ADRA1A

TNR (Tenascin R): TNR is an extracellular matrix protein predominantly found in the central nervous system. It is involved in neural development, particularly in synaptic plasticity and neuronal differentiation. TNR plays a role in the formation of neural networks and has been studied in the context of neurodevelopmental and neurodegenerative disorders....




ADH1B (Alcohol Dehydrogenase 1B): ADH1B is involved in the initial step of alcohol metabolism, converting ethanol to acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and susceptibility to alcohol-related diseases....

ADH1B

OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 encodes a transcriptional repressor that is involved in the regulation of gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and barrier formation....



OVOL1

PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is an RNA-binding protein that plays a role in RNA splicing and regulation of gene expression. It is involved in neuronal development and has been implicated in neurodevelopmental disorders....




PTBP2

LBP (Lipopolysaccharide-Binding Protein): LBP is a protein involved in the immune response to bacterial infections. It plays a crucial role in binding to bacterial lipopolysaccharides (LPS) and initiating the innate immune response. LBP is an essential component of the host defense against bacterial pathogens....

SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma): SCNN1G encodes the gamma subunit of the epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis in epithelial tissues such as the lung, kidney, and colon. This channel is pivotal for the reabsorption of sodium from the luminal fluid, a process essential for maintaining blood pressure, fluid volume, and electrolyte balance. The gamma subunit plays a key role in modulating the channel's activity and response to regulatory signals, including hormones like aldosterone. Mutations or dysregulation of SCNN1G can lead to conditions affecting fluid and electrolyte balance, such as Liddle's...

SCNN1G

TSHR (Thyroid-Stimulating Hormone Receptor): TSHR encodes the thyroid-stimulating hormone receptor, which is found on the surface of thyroid cells. It plays a central role in regulating thyroid hormone production and release in response to pituitary signals. Dysregulation of TSHR can lead to thyroid disorders....




TSHR

LURAP1 (Leucine Rich Adaptor Protein 1): LURAP1 is a leucine-rich protein that's believed to play a role in signal transduction pathways. While its specific functions are not fully understood, it is thought to be involved in the regulation of cellular processes such as cell migration and cytoskeletal organization....

LURAP1

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 encodes a protein that serves as a regulatory subunit of protein phosphatase 1 (PP1). PP1 is involved in the dephosphorylation of target proteins and plays a critical role in cell signaling, metabolism, and cell cycle regulation. PPP1R17 likely modulates the specificity and activity of PP1, impacting various cellular processes....

PPP1R17

SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene associated with lipid metabolism and mitochondrial health. It is involved in the synthesis of cardiolipin, a unique phospholipid predominantly found in mitochondrial inner membranes. Cardiolipin is crucial for mitochondrial function and membrane integrity. Mutations in SERAC1 can disrupt cardiolipin production, leading to mitochondrial dysfunction and potentially causing mitochondrial disorders....




SERAC1

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...

SARDH (Sarcosine Dehydrogenase): SARDH is involved in the metabolism of sarcosine, an intermediate in the metabolism of choline to glycine. It plays a role in one-carbon metabolism, which is important for various biological processes, including DNA methylation. Dysfunctions in SARDH can affect metabolic pathways and have been studied in the context of certain metabolic disorders....




SARDH

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B regulates the activity of protein phosphatase 1, which is involved in glycogen metabolism. It plays a role in controlling glycogen storage in the liver and is implicated in glucose homeostasis and metabolic disorders....




PPP1R3B

TNKS (Tankyrase): TNKS encodes a poly(ADP-ribose) polymerase that is involved in multiple cellular processes, including regulation of telomere length, Wnt/β-catenin signaling, and DNA repair. It plays a crucial role in cellular proliferation and survival. TNKS has been studied in the context of cancer therapy, given its role in promoting tumor growth....

TNKS

MXRA8 (Matrix Remodeling-Associated Protein 8): MXRA8 is a gene associated with matrix remodeling, a vital process in tissue development and repair. While its specific roles are still being explored, MXRA8's involvement in extracellular matrix interactions suggests potential contributions to tissue homeostasis and regeneration. Understanding its functions may hold implications for tissue engineering and regenerative medicine....



MXRA8

TNFRSF1A (Tumor Necrosis Factor Receptor Superfamily Member 1A): TNFRSF1A is a key receptor in the tumor necrosis factor receptor (TNFR) superfamily that plays a pivotal role in mediating cellular responses to tumor necrosis factor-alpha (TNF-α). This receptor is involved in a wide array of critical biological processes, including inflammation, immune response regulation, apoptosis (programmed cell death), and cell proliferation. Binding of TNF-α to TNFRSF1A triggers signal transduction pathways that activate inflammatory response mechanisms and can lead to cell survival or death, depending on the context. Given its central role in inflammation and immune system modulation, TNFRSF1A is implicated in the...

TNFRSF1A

TNFSF18 (TNF Superfamily Member 18): Also known as GITR ligand, TNFSF18 is involved in modulating immune responses. It binds to GITR on T cells and regulatory T cells, enhancing the effector T cell response while inhibiting the function of regulatory T cells. This dual role makes TNFSF18 an important target in cancer immunotherapy and in the treatment of autoimmune diseases....




TNFSF18

TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is part of the TBC1 domain family, known for their role in intracellular trafficking and signaling. This gene is involved in the regulation of membrane trafficking and may have implications in cellular transport processes. Understanding TBC1D8B can provide insights into cellular homeostasis and diseases related to intracellular transport dysfunction....



TBC1D8B

LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is involved in cell adhesion and communication. It is known for its potential tumor suppressor activity, particularly in gastric cancer. The gene's function is crucial in maintaining the integrity of cell-to-cell interactions and signaling....

LRRC3B

LONP2 (Lon Peptidase 2, Mitochondrial): LONP2 encodes a mitochondrial protease that is crucial for mitochondrial function and maintenance. It helps in the degradation of damaged or misfolded mitochondrial proteins, thus playing a key role in mitochondrial quality control. Impairments in LONP2 function can lead to mitochondrial disorders and contribute to aging-related diseases....

LONP2

TGFB2 (Transforming Growth Factor Beta 2): TGFB2 is a cytokine involved in cell growth, proliferation, differentiation, and apoptosis. It plays a critical role in embryonic development and tissue repair and has been implicated in various diseases, including cancer and fibrotic diseases....



TGFB2

TTC28 (Tetratricopeptide Repeat Domain 28): TTC28 encodes a protein that contains tetratricopeptide repeat (TPR) domains, which are known to mediate protein-protein interactions. While the specific biological functions of TTC28 are not fully characterized, proteins with TPR domains are generally involved in a variety of cellular processes, including the regulation of transcription, cell cycle, and protein transport. Research into TTC28 may reveal its roles in these cellular pathways and its potential implications for diseases associated with dysregulation of protein interactions....




TTC28

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1, also known as SINTBAD, is a scaffold protein involved in the regulation of innate immunity and inflammatory responses. It interacts with TBK1 and IKKε kinases, playing a crucial role in antiviral responses and the production of type I interferons. TBKBP1's role in modulating immune signaling pathways highlights its importance in immune defense and its potential as a therapeutic target in inflammatory and autoimmune diseases....



TBKBP1

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

MAP2K5

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



TENM4

MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that is involved in early embryonic development and organogenesis. It plays a role in limb development and hematopoiesis. MEIS1 has been associated with restless legs syndrome (RLS) and has implications in neurological and developmental disorders....



MEIS1

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

PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is part of the 26S proteasome, responsible for degrading ubiquitinated proteins. It plays a crucial role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins, and is involved in regulating various cellular processes, including cell cycle and stress responses....




PSMC1

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

RRAS2

MMP15 (Matrix Metallopeptidase 15): MMP15, part of the matrix metalloproteinase family, plays a significant role in the breakdown and remodeling of the extracellular matrix (ECM). This enzyme is involved in various physiological processes, including wound healing, angiogenesis, and embryonic development, by regulating the composition of the ECM. MMP15's activity is critical for tissue repair and remodeling, but its dysregulation can contribute to pathological conditions such as cancer invasion and metastasis, fibrosis, and inflammatory diseases. The precise control of MMP15 activity highlights its importance in maintaining tissue integrity and its potential as a therapeutic target in ECM-related disorders....



MMP15

MDFIC (MyoD Family Inhibitor Domain Containing): MDFIC is implicated in the regulation of gene expression, particularly in muscle development. It acts as an inhibitor of the MyoD family of transcription factors, which are key in muscle differentiation, and its dysregulation can impact muscle development and repair....



MDFIC

RGS18 (Regulator of G Protein Signaling 18): RGS18 is involved in the regulation of G protein-coupled receptor signaling, specifically influencing signaling in hematopoietic cells. It plays a role in platelet function and immune responses, with its dysregulation potentially impacting blood coagulation and immune system disorders....

RGS18

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...

S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for sphingosine-1-phosphate (S1P), a lipid signaling molecule that influences immune cell migration, angiogenesis, and endothelial barrier integrity. S1PR4 is predominantly expressed in hematopoietic cells and plays a role in regulating immune responses and inflammation. Alterations in S1PR4 signaling can contribute to immune disorders and inflammatory diseases, emphasizing its role in immune regulation and inflammation....

S1PR4

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule that is primarily expressed in the limbic system of the brain. It plays a role in synaptic plasticity and is involved in neural development and function. LSAMP has been studied in the context of neuropsychiatric disorders and may have implications in conditions like schizophrenia....

LSAMP

RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6): RAPGEF6 is involved in signal transduction pathways that regulate cell adhesion, migration, and growth. It acts as a guanine nucleotide exchange factor for Rap proteins, modulating their activity in response to extracellular signals. Dysregulation of RAPGEF6 has been implicated in cancer progression and metastasis, highlighting its role in cellular signaling and the regulation of cell dynamics....

RAPGEF6

PRSS37 (Protease, Serine 37): PRSS37 is a gene encoding a serine protease enzyme, which plays a role in reproductive physiology. Its exact function is still being elucidated, but it's thought to be important in sperm maturation and fertility. Mutations in PRSS37 have been associated with male infertility, making it a key gene in reproductive health research....




PRSS37

R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a less characterized gene, but based on its domain structure, it is likely involved in RNA binding and may play a role in RNA metabolism or regulation. The specific functions of R3HCC1L in cellular processes and its implications in human health and disease are areas for future research....




R3HCC1L

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....

MLXIPL

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 encodes a member of the two-pore domain potassium channel family. It plays a role in ion channel function and may be involved in cellular excitability and membrane potential regulation....

KCNK17

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...



PLTP

MAML3 (Mastermind-Like Transcriptional Coactivator 3): MAML3 is a gene involved in transcriptional coactivation. It interacts with various transcription factors and coactivates their function, influencing gene expression patterns. MAML3's role in transcriptional regulation suggests its involvement in developmental processes and cell differentiation....



MAML3

TBX2 (T-Box Transcription Factor 2): TBX2 encodes a transcription factor that belongs to the T-box family. It plays a role in embryonic development and tissue differentiation, particularly in the development of the heart and limb formation....



TBX2

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....




SAMM50

DRD1 (Dopamine Receptor D1): DRD1 is a major dopamine receptor in the brain, playing a key role in the dopaminergic system, which is involved in reward, motivation, and motor control. Dysregulation of DRD1 is implicated in psychiatric disorders like schizophrenia and addictive behaviors....

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