rs6553050: This genetic marker, known as a single nucleotide polymorphism (SNP), is located in the human genome and is used in genetic studies to identify variations that may be associated with specific traits or diseases. The presence or absence of such SNPs can be linked to genetic predispositions to certain health conditions or responses to medications. rs6553050 is one of the many SNPs that researchers investigate to understand the complex interactions between genetics and health....




rs6553050

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

RSPO3 (R-Spondin 3): RSPO3 is part of the R-spondin family, which modulates the Wnt signaling pathway, crucial for embryonic development and cell growth. It has been implicated in various physiological processes, including vascular development and stem cell proliferation. Dysregulation of RSPO3 has been linked to diseases like cancer....

RSPO3

MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1): MAP3K1 is involved in the MAPK signaling pathway, which regulates various cellular processes, including proliferation, differentiation, and response to stress. Mutations in this gene can lead to developmental disorders and are implicated in various cancers....

MAP3K1

RSU1 (Ras Suppressor Protein 1): RSU1 is a protein that interacts with various signaling molecules, including Ras. It is involved in regulating cell adhesion and motility. RSU1 plays a role in cell signaling pathways and may have implications in cancer progression and metastasis....

RSU1

RTL1 (Retrotransposon Like 1): RTL1 is a gene thought to be derived from a retrotransposon and is involved in placental development. It has imprinted expression, meaning it is expressed from only one parental allele. Dysregulation of RTL1 can have implications in diseases related to genomic imprinting, such as Beckwith-Wiedemann syndrome....




RTL1

RTN4 (Reticulon 4): RTN4, also known as Nogo, is a protein known for its role in inhibiting nerve fiber growth and regeneration in the central nervous system. It's significant in the context of spinal cord injury and neurodegenerative diseases, as it impedes the ability of axons to regrow after injury. RTN4 has been a target in research seeking to promote neural regeneration and repair....

RTN4

RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a transcription factor involved in the regulation of gene expression. It plays a role in various cellular processes, including cell differentiation and immune response. Dysregulation of RUNX3 has been associated with cancer and developmental disorders....




RUNX3

RWDD3 (RWD Domain Containing 3): RWDD3 is a protein with a poorly characterized function. Its specific role in cellular processes and its relevance to human health and disease are still areas of ongoing research....

RWDD3

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

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

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

SATB1 (SATB Homeobox 1): SATB1 is a DNA-binding protein that regulates chromatin architecture and gene expression, particularly in T lymphocytes. It organizes the nuclear architecture by anchoring chromatin loops and regulates the expression of a large number of genes involved in T cell development and function. Altered SATB1 expression is associated with various cancers and is involved in the regulation of immune responses....

SATB1

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

SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a crucial role in cellular communication and the transport of substances within cells, which is vital for various cellular functions....




SCAMP1

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

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

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

SCGN (Secretagogin): SCGN is a calcium-binding protein predominantly expressed in neuroendocrine cells. It's involved in the regulation of hormone secretion and cellular signaling. SCGN has potential roles in neuroprotective mechanisms and has been studied in relation to neurological disorders like Alzheimer's disease....

SCGN

SCIN (Scinderin): SCIN is an actin-severing protein involved in the regulation of actin cytoskeleton dynamics, playing a role in cellular processes such as cell motility, secretion, and membrane trafficking. By modulating actin filament organization, SCIN contributes to the cellular responses to extracellular signals and is involved in various physiological and pathological processes, including cell migration and invasion in cancer. Research on SCIN aims to elucidate its mechanisms of action and potential as a therapeutic target in diseases characterized by abnormal cell movement....

SCIN

SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10): SCN10A encodes a member of the voltage-gated sodium channel family, which is essential for the initiation and propagation of action potentials in neurons and other excitable cells. This particular channel is predominantly expressed in peripheral sensory neurons and plays a critical role in pain sensation, making it a key player in nociception. Alterations in SCN10A function or expression have been linked to a variety of pain disorders, including neuropathic pain and inherited erythromelalgia, a condition characterized by episodes of burning pain and redness in the extremities. The channel's involvement in cardiac electrophysiology has...

SCN10A

SCN9A (Sodium Voltage-Gated Channel Alpha Subunit 9): SCN9A encodes a voltage-gated sodium channel (NaV1.7) that is highly expressed in the peripheral nervous system, particularly in pain-sensing neurons (nociceptors). Mutations in SCN9A can lead to either gain-of-function or loss-of-function effects, resulting in conditions like erythromelalgia (extreme pain and redness in extremities) or congenital insensitivity to pain, respectively. This channel is a critical modulator of pain sensation, making it a target for the development of novel analgesics....




SCN9A

SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha): SCNN1A encodes the alpha subunit of the epithelial sodium channel (ENaC), a key regulator of sodium balance and fluid homeostasis in epithelial tissues such as the lungs, kidneys, and colon. This channel plays a critical role in the absorption of sodium from extracellular fluids, a process essential for maintaining blood pressure, fluid volume, and electrolyte balance. The SCNN1A subunit is fundamental for ENaC's proper assembly, localization, and function. Mutations in the SCNN1A gene can lead to altered channel activity, contributing to various diseases, including pseudohypoaldosteronism type 1 (PHA1), a disorder characterized by salt...




SCNN1A

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

SDHAF3 (Succinate Dehydrogenase Complex Assembly Factor 3): SDHAF3 emerges as a critical player in the assembly of the succinate dehydrogenase complex, a key component of the electron transport chain in mitochondria. Within the energy factories of our cells, SDHAF3 ensures the proper functioning of this vital complex. Mutations in SDHAF3 can disrupt mitochondrial function and lead to mitochondrial disorders, underscoring its role in energy production and cellular health....

SDHAF3

SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is involved in cell adhesion and synaptic organization. It plays a role in the formation of neural circuits, particularly in the visual system, and is important for neural connectivity and communication....




SDK1

SEC16B (SEC16 Homolog B): SEC16B is involved in the regulation of protein trafficking within cells, particularly in the endoplasmic reticulum (ER)-Golgi transport pathway. It plays a role in the secretion of proteins and has implications in cellular processes such as ER stress response and protein quality control....

SEC16B

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

SEC62 (SEC62 Homolog, Preprotein Translocation Factor): SEC62 is a gene associated with protein translocation into the endoplasmic reticulum (ER). It likely plays a role in the import of proteins into the ER lumen, ensuring proper folding and processing of secretory and membrane proteins....

SEC62

SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It's predominantly found in the brain and is thought to have antioxidant properties. The exact role of SELENOM in neurological functions is not fully understood, but it may be involved in protecting neurons from oxidative stress, with implications for neurodegenerative diseases....




SELENOM

SEM1 (Semaphorin 1): SEM1, also known as 26S proteasome complex subunit DSS1, is involved in DNA repair and the regulation of protein degradation via the proteasome. It plays a role in maintaining cellular protein homeostasis and genomic integrity. SEM1's dysfunction can have implications in cancer and other diseases involving proteasome dysfunction....




SEM1

SEMA4B (Semaphorin 4B): SEMA4B is part of the semaphorin family, which is involved in axonal guidance in the nervous system. It plays a role in neural development and immune responses, and its dysregulation may be involved in neurological and immune disorders....

SEMA4B

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

SEPHS1, also known as Selenophosphate synthetase 1, is a vital enzyme involved in the biosynthesis of selenoproteins, a class of proteins containing the amino acid selenocysteine (Sec). Positioned predominantly within the cytoplasm of cells, SEPHS1 plays a crucial role in selenium metabolism and the incorporation of selenocysteine into nascent selenoproteins. One of the primary functions of SEPHS1 is its involvement in the synthesis of selenophosphate, the activated form of selenium required for selenocysteine incorporation. As a selenophosphate synthetase, SEPHS1 catalyzes the conversion of selenide and ATP into selenophosphate, providing the essential precursor for selenocysteine tRNA (Sec-tRNA^[Ser]Sec) biosynthesis. Moreover, SEPHS1 is indispensable for...




SEPHS1

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

SERINC2 (Serine Incorporator 2): SERINC2 is part of the SERINC family of proteins, which are involved in the incorporation of serine into membrane lipids, thereby playing a crucial role in the biosynthesis and maintenance of cellular membranes. This protein contributes to various cellular processes, including membrane fluidity, signaling pathways, and the immune response. SERINC2, like its family members, is implicated in the modulation of membrane composition and function, influencing cell proliferation, differentiation, and apoptosis. Its activity is essential for the proper functioning of cells and the maintenance of physiological homeostasis. Dysregulation or mutations in the SERINC2 gene can impact cellular...




SERINC2

SERPINA1 (Serpin Family A Member 1): SERPINA1, also known as alpha-1-antitrypsin, is a major protease inhibitor, primarily produced in the liver, and plays a vital role in protecting the lungs from neutrophil elastase. Deficiency in SERPINA1 can lead to alpha-1 antitrypsin deficiency, a genetic disorder that causes lung diseases like emphysema and chronic obstructive pulmonary disease (COPD), as well as liver diseases. It is crucial in maintaining the balance of proteolytic activity in lung tissues....

SERPINA1

SERPINA7, also known as Thyroxine-binding globulin (TBG), is a crucial carrier protein primarily synthesized in the liver and circulates in the bloodstream. Its primary function is to bind to and transport thyroid hormones, particularly thyroxine (T4) and triiodothyronine (T3), throughout the body. This glycoprotein plays a pivotal role in regulating the availability and distribution of thyroid hormones, which are essential for various physiological processes, including metabolism, growth, and development. By tightly binding to thyroid hormones, SERPINA7 helps to maintain their concentration within the bloodstream, ensuring efficient delivery to target tissues and organs. Moreover, alterations in SERPINA7 levels or mutations in its encoding...




SERPINA7

SERPINB1 (Serpin Family B Member 1): SERPINB1, a member of the serpin (serine protease inhibitor) family, plays a crucial role in regulating proteolytic pathways involved in inflammation and immune responses. It primarily inhibits neutrophil elastase and cathepsin G, enzymes released by neutrophils during inflammation, preventing excessive tissue damage. SERPINB1's protective role in maintaining lung tissue integrity is highlighted in conditions like cystic fibrosis and chronic obstructive pulmonary disease (COPD), where its deficiency or dysregulation can lead to enhanced tissue degradation and disease progression. Its function in controlling protease activity underscores its importance in balancing the body's need to fight infection with...

SERPINB1

SERPINB10 (Serpin Family B Member 10): SERPINB10 is a member of the serpin family of protease inhibitors and plays a role in regulating protease activity in various biological processes. Its specific functions and implications in human disease are not fully understood....

SERPINB10

SERPINE2 (Serpin Family E Member 2): SERPINE2, also known as protease nexin-1, is a serine protease inhibitor with broad specificity, playing a significant role in regulating proteolytic pathways involved in tissue remodeling, fibrinolysis, and neuronal growth. It inhibits thrombin and urokinase-type plasminogen activator, crucial for blood clotting and tissue repair processes. Dysregulation of SERPINE2 has been associated with various cardiovascular and neurological disorders, highlighting its role in maintaining tissue integrity and function....




SERPINE2

SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein that contains a SERTA domain, which is associated with cell cycle regulation. Beyond its role in cell cycle progression, SERTAD2 is involved in intricate cellular processes such as DNA replication, DNA repair, and chromatin remodeling. Its ability to interact with various transcription factors and co-regulators makes it a pivotal player in orchestrating gene expression. ...

SERTAD2

SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a regulator of histone acetylation and chromatin remodeling. SETBP1 plays a role in gene regulation and has been associated with developmental disorders and leukemia....

SESN3

TMEM171 (Transmembrane Protein 171): TMEM171 is a gene that encodes a transmembrane protein. While its precise functions and roles in cellular processes are not fully characterized, transmembrane proteins are often involved in cell signaling, transport of molecules across cell membranes, and cellular communication. Further research is needed to uncover the specific functions of TMEM171 in cellular biology....

TMEM171

TMEM243 (Transmembrane Protein 243): The function of TMEM243 is not well characterized. It is a transmembrane protein, and like many such proteins, it may be involved in cellular signaling or transport processes....




TMEM243

TMEM245 (Transmembrane Protein 245): TMEM245 is a transmembrane protein with currently unclear functions. It may be involved in cellular processes associated with membrane dynamics or intracellular trafficking, but its specific role in cellular physiology and potential involvement in disease states require further investigation....

TMEM245

TMEM258 (Transmembrane Protein 258): TMEM258 is a part of the oligosacch aryltransferase complex, involved in N-linked glycosylation, a process essential for protein folding and stability. It's implicated in the proper functioning of the endoplasmic reticulum and has potential roles in various physiological processes and diseases related to protein misfolding....




TMEM258

TMEM51 (Transmembrane Protein 51): TMEM51 is involved in cellular processes related to membrane organization and trafficking. Its specific functions are not well-defined, but it's believed to play a role in intracellular transport and cell signaling pathways....

TMEM51

TMEM72 (Transmembrane Protein 72): TMEM72 is a less characterized transmembrane protein. Its specific role in cellular processes and potential implications in human diseases are subjects of ongoing research. Transmembrane proteins like TMEM72 often play roles in cellular signaling, transport, and communication, making them significant in various physiological and pathological processes....

TMEM72

TMPRSS4 (Transmembrane Protease, Serine 4): TMPRSS4 is a member of the transmembrane serine protease family, known for its role in processing various proteins involved in physiological and pathological processes. This enzyme is localized on the cell surface, where it participates in the activation of proteins by cleaving peptide bonds. TMPRSS4 has been implicated in several critical biological pathways, including cell migration, invasion, and the regulation of epithelial-mesenchymal transition (EMT), which is pivotal in development, wound healing, and cancer metastasis. Its overexpression is associated with the progression of various cancers, making TMPRSS4 a potential biomarker for cancer diagnosis and prognosis, as...

TMPRSS4

TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is important in iron regulation, specifically in the control of hepcidin, a key regulator of iron absorption. Mutations in TMPRSS6 can lead to iron-refractory iron deficiency anemia (IRIDA), a condition characterized by anemia that does not respond to oral iron therapy....




TMPRSS6

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....

TNFAIP3 (TNF Alpha Induced Protein 3): Also known as A20, TNFAIP3 is a critical negative regulator of NF-kB signaling and plays a pivotal role in controlling inflammation and immune responses. It acts by ubiquitinating signaling molecules to terminate NF-kB activation, thus preventing prolonged inflammatory responses that can lead to autoimmune diseases. Mutations or dysregulation of TNFAIP3 are associated with several autoimmune and inflammatory diseases, making it a key target for therapeutic research....

TNFAIP3

TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11B): TNFRSF11B, also known as osteoprotegerin, is a key regulator of bone metabolism. It acts as a decoy receptor for RANKL, inhibiting osteoclastogenesis and preventing bone resorption. It plays a critical role in bone density and strength, and alterations in its function are linked to osteoporosis and other bone diseases....

TNFRSF11B

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

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

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

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

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

TNIP1 (TNFAIP3 Interacting Protein 1): TNIP1 works closely with TNFAIP3 to inhibit NF-kB activation and modulate immune responses. It is essential for maintaining immune homeostasis and preventing autoimmunity. Dysregulation of TNIP1 has been linked to various autoimmune conditions, highlighting its importance in immune regulation. Research on TNIP1 focuses on its potential role in the development and treatment of autoimmune diseases....




TNIP1

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

TNP1, or Transition Protein 1, is a protein primarily found in the nuclei of developing spermatids, the immature male germ cells, during spermiogenesis—the final stage of spermatogenesis where round spermatids differentiate into mature spermatozoa. TNP1 is a member of a family of small, highly basic proteins known as transition proteins, which are involved in the chromatin remodeling process that occurs during spermiogenesis. One of the primary functions of TNP1 is its role in the replacement of histones with protamines, specialized proteins that condense and package DNA into a highly compacted form within the sperm nucleus. During spermiogenesis, TNP1 binds to histones...

TNP1

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....




TNXB (Tenascin-XB): TNXB, a member of the tenascin family of extracellular matrix proteins, plays a pivotal role in tissue development, organization, and homeostasis. It is primarily expressed in connective tissues, where it contributes to the structural integrity and elasticity of the extracellular matrix (ECM). TNXB is involved in cell adhesion, migration, and proliferation, influencing processes such as wound healing, tissue remodeling, and organogenesis. Its expression is particularly prominent in skin, tendons, and blood vessels, where it modulates the mechanical properties and resilience of these tissues. Mutations or deficiencies in TNXB have been associated with Ehlers-Danlos syndrome (EDS), a group of...




TNXB

TOMM40 (Translocase of Outer Mitochondrial Membrane 40): TOMM40 is a key protein involved in mitochondrial biology, specifically in the process of protein import into the mitochondria. As a component of the TOM complex, TOMM40 facilitates the translocation of nuclear-encoded proteins across the outer mitochondrial membrane, where they can fulfill various essential functions within the mitochondria. This protein is particularly notable for its association with Alzheimer's disease, as certain variants of TOMM40 have been implicated in modulating the risk and age of onset of the disease. Beyond Alzheimer's, TOMM40 has been implicated in other neurodegenerative disorders and age-related cognitive decline, underscoring...

TOMM40

TOP1 (DNA Topoisomerase I): TOP1 encodes the enzyme DNA topoisomerase I, which plays a crucial role in DNA replication and repair. This enzyme is responsible for relieving torsional stress in DNA strands by introducing transient breaks in the DNA double helix. TOP1 is essential for maintaining genomic stability and ensuring accurate DNA replication and transcription....




TOP1

TOX3 (TOX High Mobility Group Box Family Member 3): TOX3 is a member of the high mobility group (HMG) box family and is involved in transcriptional regulation. It has been studied in relation to breast cancer risk, as genetic variants in TOX3 have been associated with an increased risk of developing breast cancer....




TOX3

TP53 (Tumor Protein P53): TP53 is one of the most well-known tumor suppressor genes. It encodes the p53 protein, which plays a central role in preventing the development of cancer. p53 regulates cell cycle arrest, DNA repair, and apoptosis in response to DNA damage. Mutations in TP53 are associated with a wide range of cancers, making it a critical gene in cancer research and therapy....

TP53

TP63 (Tumor Protein P63): TP63 is a member of the p53 family of transcription factors, playing a key role in the development and maintenance of epithelial tissues, as well as in cell cycle regulation and apoptosis. It has distinct roles in embryonic development, stem cell maintenance, and tumorigenesis. Mutations in TP63 can lead to a range of developmental disorders and have been implicated in cancer. Studies aim to understand TP63's dual roles in normal cellular functions and disease states....

TP63

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

TPH2 (Tryptophan Hydroxylase 2): TPH2 is an enzyme critical in the synthesis of serotonin, a neurotransmitter involved in regulating mood, sleep, and appetite. TPH2 is primarily found in the brain and is essential for brain serotonin production. Genetic variations in TPH2 have been linked to psychiatric disorders, including depression and bipolar disorder....

TPH2

TPO (Thyroid Peroxidase): TPO encodes the thyroid peroxidase enzyme, which is crucial for thyroid hormone synthesis. It catalyzes the iodination and coupling of thyroid hormone precursors, ultimately leading to the production of thyroid hormones (T3 and T4). Dysregulation of TPO can result in thyroid disorders....




TPSB2 (Tryptase Beta 2): TPSB2 encodes a member of the serine protease family, specifically a type of tryptase. Tryptases are involved in allergic responses and are found in mast cells. They play a role in inflammation and immune response, and elevated levels of tryptase are associated with allergic reactions and certain mast cell-related disorders....




TPSB2

TRAF5 (TNF Receptor-Associated Factor 5): TRAF5 is a member of the TRAF protein family, which mediates signal transduction from various receptors, including TNF receptors and Toll-like receptors, playing a key role in immune and inflammatory responses. TRAF5 is involved in NF-kB activation, a pathway essential for immune regulation, cell survival, and differentiation. Dysregulation of TRAF5 can contribute to autoimmune diseases, making it a potential target for therapeutic intervention in immune disorders....

TRAF5

TRAPPC14 (Trafficking Protein Particle Complex 14): TRAPPC14 is a component of the TRAPP (Trafficking Protein Particle) complex, which plays a vital role in vesicular transport processes within cells. This protein is involved in the regulation of trafficking between various membranous organelles, including the endoplasmic reticulum, Golgi apparatus, and endosomes. TRAPPC14 functions as part of the machinery that ensures the precise delivery of cargo proteins and lipids across different cellular compartments, critical for maintaining cellular homeostasis and function. Its role is particularly important in the context of protein secretion, membrane biogenesis, and the maintenance of organelle integrity. Dysregulation or genetic mutations...

TRAPPC14

TRAPPC9 (Trafficking Protein Particle Complex Subunit 9): TRAPPC9 is a gene associated with a subunit of the trafficking protein particle (TRAPP) complex. This complex is involved in vesicle trafficking within cells, facilitating the movement of proteins and lipids between cellular compartments. TRAPPC9's role in vesicle trafficking is essential for maintaining cellular function and organization....

TRAPPC9

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme responsible for catalyzing the methylation of cytosine at position 38 in tRNA molecules. This post-transcriptional modification, known as 5-methylcytosine (m5C), is essential for the stability and proper function of tRNA. Methylation of cytosine at position 38 contributes to tRNA folding, stability, and accurate codon recognition during translation. TRDMT1-mediated tRNA methylation plays crucial roles in various cellular processes, including protein synthesis, regulation of gene expression, and cellular stress responses. Dysregulation of TRDMT1 activity or tRNA methylation has been implicated in several human diseases, including cancer, neurodegenerative disorders, and developmental abnormalities. Additionally, TRDMT1 has been shown...




TRDMT1

TREH (Trehalase): TREH encodes the enzyme trehalase, which is involved in the hydrolysis of trehalose, a disaccharide sugar. Trehalase is important for carbohydrate metabolism, particularly in the gut where trehalose is broken down. Deficiencies in trehalase activity can lead to trehalose intolerance, characterized by gastrointestinal symptoms following trehalose ingestion....

TREH

TRHDE (Thyrotropin-Releasing Hormone Degrading Enzyme): TRHDE encodes an enzyme responsible for the degradation of thyrotropin-releasing hormone, which is important in regulating the thyroid axis. It plays a role in maintaining hormonal balance and has implications in metabolic processes and mood regulation....

TRHDE

TRIB1 (Tribbles Pseudokinase 1): TRIB1 is a gene that encodes a pseudokinase protein belonging to the Tribbles family. Tribbles proteins are involved in the regulation of various signaling pathways, including those related to cellular growth, metabolism, and inflammation. TRIB1 has been associated with lipid metabolism, cardiovascular diseases, and cancer. Its intricate roles in these processes are areas of ongoing research....




TRIB1

TRIB2 (Tribbles Pseudokinase 2): TRIB2 is a member of the tribbles family, involved in various cellular processes, including cell proliferation and survival. It acts as a modulator of signaling pathways and has been implicated in cancer development, particularly in leukemias....

TRIB2

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is involved in various cellular processes, including stress response, cell proliferation, and metabolism. It acts as a modulator of signaling pathways and has been implicated in the development of conditions such as insulin resistance, cancer, and cardiovascular diseases....

TRIB3

TRIB3 (Tribbles Pseudokinase 3): TRIB3 is a pseudokinase that modulates various signaling pathways involved in cell survival, metabolism, and stress responses. It acts as a regulator of cellular stress by modulating pathways related to the unfolded protein response and insulin signaling. Overexpression of TRIB3 has been linked to several conditions, including insulin resistance, cardiovascular diseases, and cancer, by influencing cell proliferation and apoptosis....

TRIM33 (Tripartite Motif Containing 33): TRIM33 is an E3 ubiquitin ligase involved in transcriptional regulation and DNA repair. It plays a role in chromatin remodeling and has been implicated in the regulation of stem cell differentiation and in the suppression of tumorigenesis....

TRIM33

TRIM37 (Tripartite Motif Containing 37): TRIM37 is a gene encoding a protein with E3 ubiquitin ligase activity, involved in protein degradation. It has been implicated in the Mulibrey nanism, a rare growth disorder. The study of TRIM37 is important in understanding growth and developmental disorders and the ubiquitin-proteasome system....




TRIM37

TRIM63 (Tripartite Motif Containing 63): TRIM63, also known as MuRF1, is involved in muscle protein degradation, particularly during muscle atrophy. It targets specific muscle proteins for ubiquitination and subsequent degradation in the proteasome. TRIM63 is important in conditions of muscle wasting such as cachexia, sarcopenia, and heart failure. Understanding its role could aid in developing therapies for muscle-wasting diseases....




TRIM63

TRIM69 (Tripartite Motif Containing 69): TRIM69 is part of the TRIM protein family, which is involved in various cellular processes, including viral defense, regulation of transcription, and cell cycle control. TRIM69 has been studied for its role in antiviral response and immune regulation. It has the potential to influence the innate immune system by modulating the activity of key signaling pathways. Research into TRIM69 aims to uncover its specific mechanisms of action and its impact on disease resistance and immune function....

TRIM69

TRMO (tRNA Methyltransferase 10 Homolog A): TRMO is a gene involved in tRNA modification. It encodes an enzyme responsible for methylating specific nucleotides in tRNA molecules. tRNA modifications are essential for accurate protein synthesis during translation....

TRMO

TRMT6, also known as tRNA methyltransferase 6 homolog, is an enzyme involved in the post-transcriptional modification of transfer RNA (tRNA). Specifically, TRMT6 belongs to the class I-like SAM (S-adenosylmethionine)-dependent methyltransferase superfamily and catalyzes the methylation of specific nucleotides within tRNA molecules. One of the primary functions of TRMT6 is its role in the modification of adenosine residues at the wobble position of certain tRNA molecules. This modification is crucial for ensuring accurate and efficient translation of mRNA into protein during the process of protein synthesis. Methylation at the wobble position of tRNA helps stabilize codon-anticodon interactions and contributes to the fidelity...

TRMT6

TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6): TRPM6 is a channel involved in magnesium absorption and homeostasis. It is essential for maintaining proper magnesium balance in the body, and mutations in TRPM6 can lead to hypomagnesemia with secondary hypocalcemia, a condition characterized by low levels of magnesium and calcium in the blood....




TRPM6

TRPM8 (Transient Receptor Potential Cation Channel Subfamily M Member 8): TRPM8 is a gene encoding a calcium channel that is sensitive to cold temperatures and is involved in the sensation of cold. It is predominantly expressed in sensory neurons and plays a role in cold perception and pain modulation. Activation of TRPM8 by cold temperatures or specific chemicals can trigger a cold sensation....




TRPM8

TRPS1 (Tricho-Rhino-Phalangeal Syndrome Type I): TRPS1 is a transcription factor involved in the regulation of growth and development of bone, hair, and connective tissue. Mutations in TRPS1 cause Tricho-Rhino-Phalangeal syndrome, characterized by craniofacial and skeletal abnormalities. Understanding TRPS1's function helps in diagnosing and managing this syndrome, with research focused on elucidating its role in tissue development and differentiation....

TRPS1

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

TSHZ3 (Teashirt Zinc Finger Homeobox 3): TSHZ3 is a transcription factor involved in embryonic development and tissue differentiation. It plays a role in the development of various organs and tissues. Mutations in TSHZ3 can lead to developmental abnormalities....

TSHZ3

TSKU (Tafazzin Knockdown Factor Upstream): TSKU is a gene related to tafazzin, an enzyme involved in cardiolipin biosynthesis, a phospholipid found in the inner mitochondrial membrane. Tafazzin is crucial for mitochondrial function and energy production. TSKU's role in tafazzin regulation suggests its involvement in maintaining mitochondrial membrane integrity....




TSKU

TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays an important role in the initiation of allergic inflammation and the regulation of immune responses at the epithelial barrier. It acts on dendritic cells, triggering a Th2-biased immune response, which is critical in the development of allergic diseases, including asthma, atopic dermatitis, and eosinophilic esophagitis. Research into TSLP focuses on its potential as a target for treating various allergic disorders, understanding its mechanism can lead to innovative therapies for these conditions....

TSLP

TSPAN5 (Tetraspanin 5): TSPAN5 is part of the tetraspanin family, known for their roles in cell signaling, adhesion, and migration. Tetraspanins are involved in the organization of various cellular processes and are important in the development and function of the immune system and in cancer metastasis. TSPAN5, in particular, may play a role in neural development and synaptic function, but its specific functions and implications in human health and disease are still being explored....




TSPAN5

TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is associated with the translocator protein (TSPO), involved in mitochondrial function and steroidogenesis. It plays a role in regulating cholesterol transport and mitochondrial respiration. While its specific functions are still being elucidated, TSPOAP1's association with mitochondrial activity suggests its importance in cellular energy metabolism and the potential impact on neurodegenerative diseases and mood disorders....



TSPOAP1

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

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The home testing kit was simple to use, and the instructions were clear. The detailed report was very informative, and I felt reassured by the opportunity to discuss the results with a professional.

The home test was well-designed and came with clear, step-by-step instructions. The results were detailed and easy to interpret. I also appreciated being able to ask follow-up questions about my report.

PKD2L2

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