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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

CBLB (C-Cbl Proto-Oncogene B, E3 Ubiquitin Protein Ligase): CBLB encodes an E3 ubiquitin ligase protein that regulates intracellular signaling pathways by targeting proteins for degradation. It plays a role in immune responses and is involved in negatively regulating T cell activation. Dysregulation of CBLB can lead to autoimmune diseases and immune-related disorders....



CBLB

COPS9 (COP9 Signalosome Subunit 9): COPS9 is part of the COP9 signalosome, a complex that regulates protein degradation and is involved in various cellular processes, including cell cycle control, signal transduction, and DNA repair. The COP9 signalosome acts by modulating the activity of the ubiquitin-proteasome system, influencing the stability of a wide range of proteins. COPS9's role in this complex underscores its importance in maintaining cellular homeostasis and its potential involvement in the development of diseases when these processes are dysregulated....



COPS9

GPR83 (G Protein-Coupled Receptor 83): GPR83 is a G protein-coupled receptor (GPCR) that is expressed in the brain and is involved in the regulation of appetite and energy homeostasis. It has been studied in the context of feeding behavior and metabolic disorders....

GPR83

PKNOX1 (PBX/Knotted 1 Homeobox 1): PKNOX1 is a transcription factor involved in developmental processes and cellular differentiation. It regulates gene expression during embryogenesis and may be involved in hematopoietic cell development. Dysregulation of PKNOX1 can have implications in developmental abnormalities....




PKNOX1

CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is essential for the formation and function of caveolae, small invaginations in the plasma membrane involved in various cellular processes, including endocytosis and signal transduction. It plays a role in lipid metabolism, endothelial function, and mechanoprotection of cells. Mutations in CAVIN1 have been linked to diseases such as lipodystrophy and muscular dystrophies, highlighting its importance in cell structure and metabolism....



CAVIN1

CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is part of the CCR4-NOT complex, which plays a significant role in regulating gene expression, including mRNA turnover and degradation. It's involved in various aspects of RNA metabolism and can influence cellular processes like development, differentiation, and response to stress....



CNOT2

CAV1 (Caveolin-1): Caveolin-1 serves as a principal component of caveolae, small invaginations of the plasma membrane found in many vertebrate cell types. It is crucial for various cellular processes, including signal transduction, lipid metabolism, and endocytosis. CAV1 plays a significant role in modulating cellular signaling pathways by acting as a scaffolding protein that regulates the activity of numerous signaling molecules. Its involvement extends to the regulation of endothelial nitric oxide synthase (eNOS), which is essential for vascular tone and blood flow. Mutations and dysregulation of CAV1 expression have been linked to a variety of pathological conditions, including cancer, cardiovascular diseases,...



CAV1

COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 is involved in the biosynthesis of coenzyme Q (CoQ), a molecule essential for mitochondrial energy production. It catalyzes a key step in the CoQ biosynthetic pathway. Mutations in COQ5 can lead to CoQ deficiency, which has implications in mitochondrial diseases and energy metabolism disorders. ...



COQ5

HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is part of the HLA complex, crucial for immune system regulation through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells, initiating immune responses. Variations in HLA-DQA2 are associated with susceptibility to autoimmune diseases, underlining its role in immune tolerance and autoimmunity....

HLA-DQA2

PKP4 (Plakophilin 4): PKP4 is a protein involved in cell-cell adhesion, particularly in desmosomes, which are specialized structures that connect adjacent cells. PKP4 plays a role in maintaining tissue integrity, especially in tissues that undergo mechanical stress. Mutations in PKP4 can lead to skin and cardiac disorders....




PKP4

CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a part of the CCR4-NOT complex, which is essential for regulating gene expression at multiple levels, including mRNA degradation and transcriptional control. This gene plays a role in various cellular processes, including immune responses and development. Dysregulation of CNOT4 has been implicated in cancer and other diseases, highlighting its importance in gene regulation and disease....



CNOT4

CATSPER2 (Cation Channel, Sperm Associated 2): CATSPER2 is essential for sperm motility and fertility, forming part of a complex calcium channel in sperm that is necessary for the hyperactivated motility required for fertilization. Mutations in CATSPER2 can lead to male infertility due to impaired sperm function. Research on CATSPER2 offers insights into reproductive health and potential targets for contraception or treatments for infertility....



CATSPER2

PFKL (Phosphofructokinase, Liver Type): PFKL is involved in glycolysis, a fundamental metabolic pathway that converts glucose into energy. PFKL plays a vital role in glucose metabolism and energy production, particularly in the liver, where it contributes to glucose utilization and storage....




PFKL

UTP20 (UTP20, Small Subunit Processome Component): UTP20 is involved in the processing and assembly of the 18S rRNA, a crucial component of the small ribosomal subunit. It plays a role in ribosome biogenesis, which is essential for protein synthesis. Dysfunctions in UTP20 can affect cell growth and proliferation, with potential implications in developmental disorders and cancers....




UTP20

CPED1 (Cadherin Like And PC-Esterase Domain Containing 1): CPED1 is involved in cell adhesion and signaling, though its precise biological functions are not fully elucidated. It may play a role in developmental processes and has been associated with body mass index and adiposity....



CPED1

PLAAT1 (Phospholipase A And Acyltransferase 1): PLAAT1 is an enzyme involved in lipid metabolism, particularly in the remodeling of phospholipids in cell membranes. Its specific physiological roles are not fully understood, but it may be involved in cell signaling and membrane dynamics, with potential implications in metabolic and inflammatory processes....




PLAAT1

VEGFA (Vascular Endothelial Growth Factor A): Much like MMP15's involvement in tissue remodeling and angiogenesis, VEGFA holds a central role in regulating blood vessel formation and vascular function. As a key member of the vascular endothelial growth factor (VEGF) family, VEGFA stimulates the proliferation and migration of endothelial cells, promoting the formation of new blood vessels (angiogenesis) crucial for various physiological processes including wound healing, embryonic development, and tissue repair. The precise regulation of VEGFA expression and activity is essential for maintaining vascular integrity and homeostasis. Dysregulation of VEGFA signaling has been implicated in numerous pathological conditions, including cancer progression,...

VEGFA

CNR2 (Cannabinoid Receptor 2): CNR2 is a G protein-coupled receptor that binds cannabinoids and is primarily expressed in the immune system. It plays a significant role in modulating immune responses, inflammation, and pain. CNR2's activation can lead to anti-inflammatory and immunosuppressive effects, making it a target for treating inflammatory diseases, pain, and other conditions where the immune response needs modulation. Understanding CNR2's mechanisms offers potential therapeutic avenues for a wide range of diseases, including autoimmune disorders and chronic pain....



CNR2

GPR25 (G Protein-Coupled Receptor 25): GPR25 is part of the G protein-coupled receptor family and is implicated in various physiological processes, including signal transduction and cell communication. Its specific functions and roles in human health and disease are still under investigation....

GPR25

COX7C (Cytochrome C Oxidase Subunit 7C): COX7C is a gene encoding a subunit of cytochrome c oxidase, an essential enzyme complex residing within mitochondria. This complex plays a pivotal role in the electron transport chain, a crucial step in cellular respiration. By facilitating the transfer of electrons and protons, COX7C contributes to the generation of cellular energy in the form of adenosine triphosphate (ATP)....



COX7C

PFKFB3, or 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, is an enzyme that plays a crucial role in cellular energy metabolism, particularly in glycolysis, the process by which glucose is metabolized to produce energy. PFKFB3 regulates the levels of fructose-2,6-bisphosphate (F2,6BP), a potent allosteric regulator of 6-phosphofructo-1-kinase (PFK-1), a key enzyme in glycolysis. One of the primary functions of PFKFB3 is its role in promoting glycolysis by synthesizing F2,6BP. F2,6BP allosterically activates PFK-1, which catalyzes the conversion of fructose-6-phosphate (F6P) to fructose-1,6-bisphosphate (F1,6BP), a critical regulatory step in glycolysis. By increasing F2,6BP levels, PFKFB3 stimulates PFK-1 activity, enhancing the flux of glucose through the glycolytic pathway...




PFKFB3

CPLANE2 (Ciliogenesis and Planar Polarity Effector 2): CPLANE2 is a gene involved in ciliogenesis and the establishment of planar cell polarity (PCP). It may contribute to the formation and function of cilia, which are important cellular structures involved in various processes, including signal transduction and cell motility....



CPLANE2

BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is involved in apoptosis and cell survival pathways. It interacts with members of the Bcl-2 family, proteins known for their roles in regulating cell death and survival, making it significant in studies of cancer and cellular stress responses....



BNIP5

CNTLN (Centlein): CNTLN is involved in centrosome function, crucial for proper cell division. It plays a role in maintaining centrosome integrity and spindle assembly during mitosis. Dysfunctions in CNTLN can lead to chromosomal instability, a hallmark of cancer cells, and are of interest in the study of tumor development and progression....



CNTLN

GALNT2 (Polypeptide N-Acetylgalactosaminyltransferase 2): GALNT2 is involved in the process of glycosylation, where it adds N-acetylgalactosamine to proteins. This modification is crucial for protein function and cellular communication. Variations in GALNT2 have been linked to lipid metabolism and are associated with lipid levels in the blood, impacting the risk of cardiovascular diseases....

GALNT2

CPPED1, also known as Serine/threonine-protein phosphatase 6 regulatory subunit 2, is a crucial regulatory protein involved in cellular signaling pathways. Positioned predominantly within the cytoplasm and nucleus of cells, CPPED1 serves as a regulatory subunit of protein phosphatase 6 (PP6), a member of the PPP family of serine/threonine phosphatases. One of the key functions of CPPED1 is its role in modulating the activity of PP6, which plays essential roles in various cellular processes, including cell cycle progression, DNA damage response, and protein degradation. By interacting with PP6, CPPED1 contributes to the regulation of substrate specificity and subcellular localization of the phosphatase,...



CPPED1

CPS1 (Carbamoyl-phosphate synthase 1): CPS1, a key enzyme in the urea cycle, plays a crucial role in the detoxification of ammonia in the body. This enzyme catalyzes the formation of carbamoyl phosphate from ammonia and bicarbonate, initiating the synthesis of urea in the liver. The urea cycle is essential for removing excess nitrogen generated from the breakdown of proteins and amino acids, preventing the accumulation of toxic ammonia in the bloodstream. CPS1 activity is tightly regulated to maintain nitrogen balance and prevent hyperammonemia, a condition associated with neurological impairment and other serious complications. Dysregulation of CPS1 function can lead to...



CPS1

PEX2 (Peroxisomal Biogenesis Factor 2): PEX2 is essential for the formation and maintenance of peroxisomes, cellular organelles that play a key role in lipid metabolism and the detoxification of reactive oxygen species. Mutations in PEX2 can lead to peroxisomal disorders, such as Zellweger syndrome, characterized by severe developmental and neurological impairments....

PEX2

PFKM (Phosphofructokinase, Muscle): PFKM is another gene involved in glycolysis and glucose metabolism, specifically in muscle tissue. It plays a pivotal role in providing energy during physical activity and muscle contraction, making it essential for muscle function....

PFKM

SORCS2 (Sortilin-Related VPS10 Domain Containing Receptor 2): SORCS2 is involved in neuronal development and signaling. It is a member of the VPS10 domain-containing receptor family, which plays roles in neurotrophic signaling and neural plasticity. Dysregulation of SORCS2 has been linked to neurological disorders, including Alzheimer’s disease and schizophrenia....



SORCS2

CPXM1 (Carboxypeptidase X, M14 Family Member 1): CPXM1 encodes a metallo-carboxypeptidase that functions in extracellular matrix remodeling. It plays a role in cell adhesion and migration, and is involved in various physiological processes, including wound healing and inflammation. Dysregulation of CPXM1 may have implications in tissue remodeling disorders and certain cancers....



CPXM1

GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme involved in glycerol metabolism and lipid biosynthesis. It catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, a critical step in lipid synthesis. GPD2's function is important for energy storage and lipid homeostasis....

GPD2

CNTN2 (Contactin 2): CNTN2, also known as TAG-1, is a neuronal cell adhesion molecule involved in the development and function of the nervous system. It plays a role in the formation of neural circuits and synaptic connections. Mutations in CNTN2 have been linked to neurodevelopmental disorders and may influence neurological functions like learning and memory....



CNTN2

PKD2L1 (Polycystic Kidney Disease 2-Like 1): PKD2L1, a member of the polycystic kidney disease (PKD) family, is a transmembrane protein predominantly expressed in sensory neurons of the peripheral nervous system and certain epithelial cells. It plays a crucial role in chemosensation and mechanosensation, particularly in taste perception and the detection of sour taste stimuli. PKD2L1 functions as a non-selective cation channel, facilitating the influx of ions upon activation by extracellular stimuli, thereby triggering cellular responses. Beyond its role in taste sensation, PKD2L1 has been implicated in other physiological processes such as gastrointestinal sensory transduction and regulation of blood pressure. Dysregulation...




PKD2L1

FGD4 (FYVE, RhoGEF, and PH Domain Containing 4): FGD4 encodes a guanine nucleotide exchange factor that specifically activates Cdc42, a member of the Rho family of GTPases. This activation plays a key role in regulating cytoskeletal organization, cell shape, and migration. Mutations in FGD4 are associated with Charcot-Marie-Tooth disease, a disorder affecting peripheral nerves, highlighting its importance in nerve development and function....

FGD4

CPXM2 (Carboxypeptidase X, M14 Family Member 2): CPXM2 encodes an enzyme that functions in the modification of proteins by removing terminal amino acids. This process is crucial in various biological processes, including protein maturation and degradation. The enzyme's role in developmental processes and neural activity has also been noted....



CPXM2

IL16 (Interleukin 16): IL16 is a cytokine that functions as a chemoattractant for certain immune cells, playing a role in immune responses and inflammation. It is involved in cellular signaling pathways and has been implicated in a variety of inflammatory and autoimmune diseases....

IL16

FBLN5 (Fibulin 5): FBLN5 is involved in elastic fiber assembly and connective tissue organization, playing a crucial role in maintaining the integrity and elasticity of extracellular matrix. It is essential for skin, vascular, and lung function. Dysregulation of FBLN5 is associated with tissue stiffness, age-related macular degeneration, and organ fibrosis, highlighting its importance in tissue remodeling and disease....

FBLN5

PITX2 (Paired Like Homeodomain 2): PITX2 is critical for the development of multiple organ systems, including the eyes, heart, and abdominal organs. It's a transcription factor involved in the left-right asymmetry of the body. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome, which affects the eyes and other organs. Understanding PITX2 is key in developmental biology and in exploring treatments for related congenital disorders....




PITX2

CLDN11 (Claudin 11): CLDN11 encodes a component of tight junctions, structures that are critical for maintaining the barrier function in tissues. It is particularly important in the central nervous system and the testes, where it plays a role in myelin sheath formation and spermatogenesis. Mutations in CLDN11 can result in neurological and reproductive issues....



CLDN11

PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway, controlling the rate of glucose metabolism. It catalyzes the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Dysregulation of PFKP can affect energy metabolism in cells and has been studied in the context of cancer, where altered glucose metabolism is a common feature....

PFKP

CNDP2 (Carnosine Dipeptidase 2): CNDP2, closely related to CNDP1, is another enzyme that participates in the metabolism of carnosine and anserine. Its function and significance are less understood than CNDP1, but it is believed to play a role in muscle and brain health. Research into CNDP2 may uncover new aspects of metabolic health and disease....



CNDP2

CNTN5 (Contactin 5): CNTN5 is part of the contactin family, playing a role in the development of the nervous system, particularly in the formation of neural connections. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities, highlighting its importance in neuronal development and function....



CNTN5

FCGR3A (Fc Fragment Of IgG Receptor IIIa): FCGR3A, also known as CD16a, is a receptor for the Fc portion of immunoglobulin G (IgG) and plays a key role in immune response by mediating antibody-dependent cellular cytotoxicity (ADCC). It is expressed on natural killer (NK) cells, macrophages, and some T cells, facilitating the clearance of pathogens and antibody-coated cells. Variations in FCGR3A have been associated with susceptibility to autoimmune diseases and response to immunotherapy in cancer treatment....

FCGR3A

PEMT (Phosphatidylethanolamine N-Methyltransferase): PEMT catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in the liver, an essential process for maintaining cell membrane integrity and VLDL secretion. PEMT's activity influences liver health, fat metabolism, and choline requirements. Dysregulation of PEMT is linked to liver and cardiovascular diseases, highlighting its significance in metabolic health....

PEMT

POLR1F (RNA Polymerase I Subunit F): POLR1F is an integral component of RNA polymerase I, responsible for the transcription of ribosomal RNA (rRNA), a critical component of ribosomes. Ribosomes are essential for protein synthesis in cells, and thus, POLR1F plays a vital role in cellular growth and function. Dysfunctions or mutations in POLR1F can lead to issues in ribosome biogenesis and function, potentially resulting in diseases associated with impaired protein synthesis. The study of POLR1F and its associated pathways is important for understanding various cellular processes and conditions related to ribosomal function and protein synthesis....

POLR1F

SGMS1 (Sphingomyelin Synthase 1): SGMS1 is involved in sphingolipid metabolism, which is crucial for cell membrane integrity and signaling. It plays a role in the conversion of ceramide to sphingomyelin, important in cell signaling and apoptosis. Dysregulation of SGMS1 has implications in metabolic and neurodegenerative diseases....



SGMS1

IL18R1 (Interleukin 18 Receptor 1): IL18R1, also known as the interleukin 18 receptor 1, is a protein that plays a significant role in the immune response by serving as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defense. IL18R1's interaction with IL-18 is crucial for the activation of natural killer cells and certain types of T-cells, which are integral to the body's response to infection and injury. Alterations in the IL18R1 gene can influence susceptibility to various inflammatory and autoimmune diseases, highlighting its importance in regulating immune and inflammatory responses....

IL18R1

FAP (Fibroblast Activation Protein Alpha): FAP encodes an enzyme known as fibroblast activation protein alpha, which is expressed by activated fibroblasts in the tumor microenvironment. It plays a role in tissue remodeling and is a potential therapeutic target in cancer treatment....

COL5A1 (Collagen Type V Alpha 1 Chain): COL5A1 is involved in the production of type V collagen, important for the structure and function of connective tissues. Mutations in this gene can lead to Ehlers-Danlos syndrome, characterized by hypermobility, skin hyperextensibility, and tissue fragility....



COL5A1

CRHR2 (Corticotropin-Releasing Hormone Receptor 2): CRHR2 is a receptor for corticotropin-releasing hormone, involved in stress response, metabolic processes, and cardiovascular function. It plays a role in regulating the body's response to stress and has been studied in relation to anxiety and heart diseases....



CRHR2

BMP6 (Bone Morphogenetic Protein 6): BMP6 is part of the bone morphogenetic protein family, which is crucial in the development and repair of bone and cartilage. It is involved in various cellular processes including cell growth, apoptosis, and differentiation. BMP6 has been studied in the context of osteogenesis and is also implicated in cancer progression....



BMP6

KANSL1, also known as KAT8 Regulatory NSL Complex Subunit 1, is a protein that plays a crucial role in chromatin regulation and gene expression. It is a component of the Non-Specific Lethal (NSL) histone acetyltransferase (HAT) complex, which is responsible for acetylating histone proteins, specifically histone H4 at lysine 16 (H4K16ac), a modification associated with transcriptional activation and chromatin remodeling. One of the primary functions of KANSL1 within the NSL complex is its role in regulating gene expression by modifying chromatin structure. The NSL complex targets specific genomic loci and catalyzes the acetylation of histone proteins, leading to an open chromatin...

KANSL1

PCDH8 (Protocadherin 8): PCDH8 belongs to the protocadherin family, cell adhesion molecules critical for the formation and maintenance of neural networks. It plays a significant role in synaptic plasticity, essential for learning and memory. Dysregulation of PCDH8 has been associated with neurodevelopmental disorders and is being studied for its role in tumor suppression, given its importance in cell-cell communication and signaling in the nervous system....

PCDH8

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 encodes an enzyme involved in phosphoinositide metabolism. It catalyzes the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a key signaling molecule in various cellular processes, including membrane trafficking and cytoskeletal organization....




PIP5KL1

FARP2 (FERM, ARH/RhoGEF, And Pleckstrin Domain Protein 2): FARP2 is a signaling protein that influences neuronal development and synaptic plasticity by regulating dendritic spine formation and actin cytoskeleton remodeling. It acts as a guanine nucleotide exchange factor for small GTPases, mediating cell signaling pathways that affect neuronal connectivity and function. Alterations in FARP2 expression or function are associated with neurological disorders, highlighting its significance in brain development and synaptic regulation....

FARP2

ST18 (Suppression of Tumorigenicity 18): ST18 is a gene associated with tumor suppression and inflammation. It may play a role in regulating cell growth and immune responses. ST18's functions are linked to its potential role in preventing tumorigenesis....



ST18

COL27A1 (Collagen Type XXVII Alpha 1 Chain): COL27A1 encodes a member of the collagen family, proteins that are essential for the structural integrity and function of connective tissues. This type of collagen is particularly important in the development and maintenance of cartilage and the skeleton. Mutations in COL27A1 have been associated with disorders affecting skeletal development, highlighting its role in bone and cartilage health. Studies on COL27A1 aim to uncover its contributions to musculoskeletal diseases and potential targets for treatment....



COL27A1

CRIPT (Cysteine-Rich PDZ-Binding Protein): CRIPT is involved in synaptic assembly and function. It encodes a protein that binds to a specific PDZ domain, playing a role in the localization of certain proteins within cells, particularly in the nervous system. Its function is significant for synaptic stability and neuronal signaling....



CRIPT

UCN3, also known as Urocortin 3, is a peptide hormone belonging to the corticotropin-releasing factor (CRF) family. It is primarily expressed in the central nervous system, particularly in regions of the brain involved in stress response regulation, such as the hypothalamus, amygdala, and brainstem. One of the primary functions of UCN3 is its role in modulating the stress response and anxiety-related behaviors. Like other members of the CRF family, UCN3 acts as a neuromodulator, influencing the activity of neurons and circuits involved in the physiological and behavioral responses to stress. UCN3 binds to and activates specific receptors, including CRF receptor type...




UCN3

IL1RL1 (Interleukin 1 Receptor Like 1): Also known as ST2, IL1RL1 is a receptor for interleukin 33 (IL-33). It acts in the immune response by mediating the effects of IL-33, a cytokine involved in inflammation and allergic reactions. IL1RL1 is significant in the pathogenesis of asthma, atopic dermatitis, and other allergic diseases. Understanding its role in the IL-33 signaling pathway offers potential therapeutic targets for treating allergic and inflammatory conditions....

IL1RL1

COL13A1 (Collagen Type XIII Alpha 1 Chain): COL13A1 encodes a transmembrane collagen that contributes to the organization and function of connective tissues. It plays a role in cell adhesion, muscle tissue integrity, and the neuromuscular junction's stabilization. Mutations or dysregulation in COL13A1 can lead to muscle disorders and are being studied for their roles in connective tissue diseases and cancer metastasis....



COL13A1

BLMH (Bleomycin Hydrolase): BLMH is an enzyme crucial for metabolizing and detoxifying the chemotherapeutic drug bleomycin. Bleomycin is effective in treating cancer by causing DNA damage in cancer cells, but it can also lead to lung toxicity as a side effect. BLMH plays a pivotal role in breaking down bleomycin into harmless compounds, reducing the risk of lung toxicity. Understanding BLMH's function is vital for optimizing cancer treatment and managing its side effects, particularly in patients receiving bleomycin-based therapies. Researchers are actively exploring strategies to enhance the safety and effectiveness of cancer treatments involving bleomycin....



BLMH

PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is involved in the synthesis of coenzyme Q10, a key molecule in the mitochondrial electron transport chain. It plays a critical role in cellular energy production and antioxidant protection. Dysfunctions in PDSS1 can lead to coenzyme Q10 deficiency, which has implications in various neuromuscular and neurodegenerative diseases....




PDSS1

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

GPR158

CLMP (CXADR Like Membrane Protein): CLMP is involved in cell adhesion and is important for the integrity of tight junctions in epithelial cells. It's crucial for gastrointestinal tract development, and mutations in CLMP have been associated with congenital short bowel syndrome, a severe developmental disorder....



CLMP

UPP1 (Uridine Phosphorylase 1): UPP1 is involved in the pyrimidine salvage pathway, converting uridine to uracil and ribose-1-phosphate. It plays a key role in nucleotide metabolism, impacting various cellular processes including DNA and RNA synthesis. Its function is particularly relevant in chemotherapy, as it affects the activation and effectiveness of certain anticancer drugs....

UPP1

GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor that plays a significant role in the regulation of gene expression in various biological processes, including thyroid hormone signaling and pancreatic beta-cell development. Mutations in GLIS3 have been linked to a range of disorders, including congenital hypothyroidism and neonatal diabetes, underscoring its importance in endocrine function and development....

GLIS3

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 plays a role in the PI3K signaling pathway, which is critical for many cellular processes including cell growth, proliferation, and survival. Its involvement in immune cell signaling makes it relevant in studies of immunity and inflammation, as well as in cancer biology....




PIK3AP1

FCER1G (Fc Epsilon Receptor I Gamma): FCER1G is an important component of the high affinity receptor for the Fc region of immunoglobulin E (IgE). It plays a critical role in allergic responses and is involved in the activation of mast cells and basophils. Alterations in this gene can influence the severity and susceptibility to allergic diseases and asthma....

FCER1G

GLO1 (Glyoxalase I): GLO1 encodes an enzyme called glyoxalase I, which is involved in the detoxification of methylglyoxal, a cytotoxic byproduct of metabolism. GLO1 plays a role in cellular protection against oxidative stress and has implications in diabetes and other diseases where glyoxalase activity is relevant....

GLO1

CLGN (Calmegin): CLGN is involved in sperm-egg fusion during fertilization. It functions in the endoplasmic reticulum of the testis and is essential for male fertility. Mutations in CLGN can lead to infertility due to its role in sperm development and function....



CLGN

GPR151 (G Protein-Coupled Receptor 151): GPR151 is a gene that encodes a G protein-coupled receptor (GPCR). GPCRs are involved in cell signaling and can respond to various signaling molecules. The specific function of GPR151 is still being investigated, but it may play a role in neural and metabolic processes....

GPR151

PDIA5 (Protein Disulfide Isomerase Family A, Member 5): PDIA5 is involved in the folding and maturation of proteins within the endoplasmic reticulum, playing a key role in ensuring proper protein conformation and function. It aids in the formation and rearrangement of disulfide bonds, crucial for protein stability. Dysregulation of PDIA5 can lead to protein misfolding diseases and has been implicated in the development of diabetes and neurodegenerative diseases, emphasizing its importance in protein quality control....

PDIA5

CRTC3 (CREB Regulated Transcription Coactivator 3): CRTC3 is a gene associated with transcriptional regulation. It encodes a coactivator protein that interacts with CREB (cAMP response element-binding protein) to modulate gene expression in response to various signaling pathways. CRTC3 is involved in processes related to cellular energy balance, metabolism, and glucose homeostasis....



CRTC3

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....

SETBP1

PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that plays a critical role in sensing mechanical stimuli like pressure and stretch in various tissues, including blood vessels and the lungs. Its function is crucial for vascular development, blood pressure regulation, and cell volume regulation. Mutations in PIEZO1 are linked to hereditary xerocytosis, a condition characterized by dehydrated red blood cells, and to other disorders involving mechanosensation....




PIEZO1

ST20 (Suppressor Of Tumorigenicity 20): ST20, also known as MINK1, is a member of the germinal center kinase (GCK) family and plays a role in various cellular processes, including apoptosis, cytoskeletal reorganization, and cell migration. It is involved in signaling pathways that regulate cell survival and proliferation. The function of ST20 in tumorigenesis and its potential as a tumor suppressor are areas of ongoing research, with implications for cancer biology and therapy....



ST20

CRYBB2 (Crystallin Beta-B2): CRYBB2 is a member of the crystallin family and is predominantly expressed in the lens of the eye. It contributes to the maintenance of lens transparency and refractive properties. CRYBB2 plays a crucial role in the structural integrity of the lens and is vital for proper vision....



CRYBB2

PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is associated with the peroxisomal degradation pathway, specifically involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Its function is related to lipid metabolism and the maintenance of cellular lipid homeostasis. While the specific roles of PHYHIPL are still being elucidated, it may play a role in metabolic disorders and conditions associated with disrupted lipid metabolism....

PHYHIPL

KATNIP (Katanin Interacting Protein): KATNIP is a gene associated with interactions with the katanin protein complex. Katanin is involved in microtubule severing, a crucial process in cell division, motility, and intracellular transport. KATNIP may modulate the activity of katanin, influencing microtubule dynamics and cellular processes....

KATNIP

IKZF2 (IKAROS Family Zinc Finger 2): IKZF2, also known as Helios, is a transcription factor important for the development and differentiation of T cells. It plays a key role in maintaining the regulatory T cell lineage and function, crucial for immune tolerance and preventing autoimmunity. Dysregulation of IKZF2 has been associated with immune system disorders and is being explored for its potential in cancer immunotherapy, given its importance in immune regulation....

IKZF2

PHKB (Phosphorylase Kinase Beta): PHKB is part of the glycogenolysis pathway, essential for glycogen breakdown. It is a regulatory subunit of phosphorylase kinase, which activates glycogen phosphorylase, the enzyme responsible for glycogen degradation. Mutations in PHKB can lead to glycogen storage disease IX, affecting liver and muscle function....




PHKB

CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that is a member of the C-type lectin-like receptor family, playing a role in the immune system. It is involved in cell signaling pathways that regulate immune responses, particularly in myeloid cells, and has been a focus in studies related to inflammation and leukemia....



CLEC12A

STAC (SH3 and Cysteine-Rich Domain): STAC, specifically STAC3 in humans, is a protein that plays a significant role in muscle contraction and function. It is involved in the excitation-contraction coupling of skeletal muscles. Mutations in the STAC3 gene are known to cause Native American myopathy, a rare congenital disorder characterized by muscle weakness, skeletal abnormalities, and susceptibility to malignant hyperthermia. The study of STAC3 is crucial for understanding muscle physiology and related disorders....



STAC

POU2F3 (POU Class 2 Homeobox 3): POU2F3 is a transcription factor primarily involved in the differentiation of epithelial cells, especially in the skin and sensory organs. It plays a critical role in the development of tuft cells, a type of chemosensory cell found in the lining of the respiratory and digestive tracts. POU2F3 is also implicated in the development of certain types of squamous cell carcinomas....

POU2F3

CSF3R (Colony Stimulating Factor 3 Receptor): CSF3R is the receptor for colony-stimulating factor 3 (CSF3), a cytokine that controls the production, differentiation, and function of granulocytes. The interaction of CSF3 with its receptor is crucial for the survival and activation of neutrophils, essential components of the innate immune response. Mutations or overexpression of CSF3R can lead to disorders of granulocyte function and proliferation, including chronic neutrophilic leukemia and severe congenital neutropenias, highlighting its role in hematopoiesis and immune defense....



CSF3R

KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3): KCND3 encodes a voltage-gated potassium channel protein that is primarily expressed in the heart and brain. These channels play a crucial role in regulating the electrical activity of cells, including cardiac and neuronal cells. Mutations in KCND3 have been associated with certain cardiac arrhythmias and neurodevelopmental disorders....

KCND3

IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 encodes a zinc finger transcription factor crucial for immune cell development and differentiation, particularly in B cells. It is frequently mutated in B-cell acute lymphoblastic leukemia (B-ALL), highlighting its pivotal role in hematopoiesis and immune system function. IKZF1's interactions with various genes and its role in maintaining immune homeostasis make it a subject of intense investigation in immunology and oncology....

IKZF1

POU3F3 (POU Class 3 Homeobox 3): POU3F3 is a member of the POU family of transcription factors, known for their role in regulating gene expression in the development of the nervous system. It is crucial for the differentiation and maintenance of neural progenitor cells, influencing the development of various brain regions. Research has shown that mutations or dysregulation of POU3F3 can be associated with neurodevelopmental disorders and might contribute to the etiology of certain psychiatric conditions....

POU3F3

PDGFB (Platelet-Derived Growth Factor Subunit B): PDGFB is a gene that encodes a growth factor subunit involved in cell signaling and tissue repair. It is a component of the platelet-derived growth factor (PDGF) family, which plays a crucial role in cell proliferation and migration. PDGFB is implicated in processes like wound healing, tissue remodeling, and angiogenesis (formation of new blood vessels)....

PDGFB

KCNIP4, also known as Kv channel-interacting protein 4, belongs to the family of Kv channel-interacting proteins (KCNIPs), also known as Kv channel regulatory proteins (KCHIPs). These proteins are associated with voltage-gated potassium (Kv) channels and modulate their function. One of the primary functions of KCNIP4 is its role in regulating the properties of Kv channels. Kv channels are integral membrane proteins that play a crucial role in controlling the electrical activity of cells by regulating the flow of potassium ions across cell membranes. KCNIP4 interacts with Kv channels and modulates their gating kinetics, voltage dependence, and trafficking to the cell membrane,...

KCNIP4

GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R encodes the receptor for glucagon-like peptide 1 (GLP-1), a hormone that regulates insulin secretion and glucose metabolism. Activation of GLP1R by GLP-1 or GLP-1 analogs enhances insulin release, suppresses glucagon secretion, and promotes satiety, making it a key target for medications used to treat type 2 diabetes and obesity....

GLP1R

GNAQ (G Protein Subunit Alpha Q): GNAQ is a subunit of G proteins, which play a crucial role in transmitting signals from the cell surface to its interior. Mutations in GNAQ have been implicated in several types of tumors, including uveal melanoma, and in Sturge-Weber syndrome, a neurological and skin disorder....

GNAQ

INAVA (Innate Immune Signal Activator): INAVA is a gene associated with innate immune signaling. It is involved in the regulation of the NF-kappaB signaling pathway, which plays a crucial role in immune responses to pathogens and inflammation. INAVA's function contributes to the activation of immune cells and the production of inflammatory mediators....

INAVA

IGLV4-60 (Immunoglobulin Lambda Variable 4-60): IGLV4-60 is part of the immunoglobulin gene family and is involved in the adaptive immune response. It encodes a component of the variable region of lambda light chains in antibodies, playing a role in antigen recognition. The diversity of immunoglobulin genes like IGLV4-60 is crucial for the ability of the immune system to respond to a wide array of pathogens....

IGLV4-60

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a key regulator of lipid metabolism, particularly in the liver. It is involved in the catabolism of fatty acids, and its activation can lead to increased fatty acid oxidation and decreased serum triglycerides. PPARA is also implicated in the regulation of inflammatory responses and is a target for drugs treating hyperlipidemias....




ANKH

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