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Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Fatigue Test

GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.

<p>GetTested’s DNA Brain Health test provides a detailed genetic analysis of 288 genes to understand factors that affect your mental health. This at-home test examines specific genes related to memory, stress management, anxiety susceptibility, and mood swings, offering a comprehensive insight into how your unique genetic makeup impacts your mental well-being.</p>

DNA Brain Health Test

PHACTR4 (Phosphatase and Actin Regulator 4): PHACTR4 is a multifunctional protein involved in the regulation of cellular signaling pathways and cytoskeletal dynamics. As a member of the PHACTR family, it exerts its effects through interactions with protein phosphatase 1 (PP1) and actin filaments. PHACTR4 has been implicated in various cellular processes, including cell cycle progression, cell migration, and neuronal development. Its role in modulating PP1 activity suggests involvement in the regulation of diverse cellular functions, including gene expression and metabolism. Additionally, PHACTR4 has been associated with cardiovascular diseases, particularly coronary artery disease, where it influences endothelial function and vascular remodeling....




PHACTR4

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




PHF14

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

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

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

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

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

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

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

PIGN

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

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



COG1

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

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

IL12B

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



COG6

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

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

PIK3R1

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



COL11A1

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

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

IL13

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

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

PDZD2

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

CLPTM1 (Cleft Lip and Palate Transmembrane Protein 1): CLPTM1 is a transmembrane protein involved in various cellular processes, including cell proliferation, apoptosis, and carcinogenesis. Although its precise function is not fully understood, studies suggest its potential involvement in cancer development and progression. CLPTM1 expression has been implicated in several cancers, including lung, pancreatic, and ovarian cancers, where it may play a role in tumor growth and metastasis. Additionally, CLPTM1 has been associated with smoking-related cancers due to its interaction with tobacco-related carcinogens. Understanding the molecular mechanisms underlying CLPTM1's function could provide insights into cancer biology and may lead to the...



CLPTM1

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

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



COL2A1

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



CNDP1

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

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

PEAK1

COLEC12 (Collectin sub-family member 12): COLEC12, a member of the collectin family, plays a pivotal role in innate immunity and host defense against pathogens. This protein is involved in the recognition and clearance of microbial pathogens through its ability to bind to specific carbohydrate patterns present on the surface of pathogens. COLEC12 is particularly important in the clearance of pathogens via the lectin pathway of the complement system, contributing to the activation of the immune response and the elimination of infectious agents. Furthermore, COLEC12 has been implicated in modulating inflammatory responses and tissue remodeling processes. Dysregulation of COLEC12 expression or...



COLEC12

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

PITX1 (Paired Like Homeodomain 1): PITX1 is a transcription factor crucial for the development of hindlimb structures and pituitary gland. Mutations in PITX1 can lead to developmental disorders like Liebenberg syndrome, characterized by upper limb malformations....

PITX1

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

COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a key role in the metabolism of catecholamines, such as dopamine, epinephrine, and norepinephrine. It is important in the regulation of neurotransmitters in the brain and is implicated in psychiatric disorders, including schizophrenia. COMT is also involved in the pain response and has been studied in relation to pain sensitivity and various psychiatric conditions....



COMT

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

PEX11A (Peroxisomal Biogenesis Factor 11 Alpha): PEX11A is involved in peroxisome biogenesis and dynamics. Peroxisomes are organelles involved in various metabolic processes, including lipid metabolism and detoxification. PEX11A is important for peroxisome proliferation and function....




PEX11A

COPB1 (Coatomer Protein Complex Subunit Beta 1): COPB1 is part of the coatomer protein complex involved in intracellular transport. It plays a role in transporting proteins between the endoplasmic reticulum and the Golgi apparatus, crucial for proper cell function and protein sorting....



COPB1

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

CNIH3 (Cornichon Family AMPA Receptor Auxiliary Protein 3): CNIH3 is involved in regulating the trafficking and function of AMPA receptors, which are essential for fast synaptic transmission in the central nervous system. By modulating AMPA receptor activity, CNIH3 plays a role in synaptic plasticity, learning, and memory. Dysregulation of CNIH3 has implications for neurological disorders, including cognitive impairments and epilepsy....



CNIH3

COPB2 (Coatomer Protein Complex Subunit Beta 2): COPB2 is part of the coatomer protein complex involved in vesicle formation and transport within cells. It plays a crucial role in the transport of proteins between the endoplasmic reticulum and the Golgi apparatus....



COPB2

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PGLYRP2 (Peptidoglycan Recognition Protein 2): PGLYRP2 is part of the peptidoglycan recognition protein family, which plays a role in innate immunity by recognizing bacterial cell wall components and mediating antibacterial responses. PGLYRP2 is involved in maintaining the integrity of the intestinal barrier and modulating the gut microbiome. It contributes to the host defense against bacterial infections and is being studied for its role in inflammatory bowel diseases and its potential as a therapeutic target in disorders of gut immunity and inflammation....

PGLYRP2

CNTNAP2, also known as Contactin Associated Protein-Like 2, is a cell adhesion molecule that belongs to the neurexin superfamily. It plays a crucial role in the development and function of the nervous system, particularly in neuronal migration, axon guidance, synaptic formation, and signal transduction. One of the primary functions of CNTNAP2 is its role in neuronal migration and axon guidance during brain development. It is predominantly expressed in the developing nervous system, where it interacts with other cell adhesion molecules, extracellular matrix proteins, and signaling molecules to regulate neuronal migration and axonal pathfinding. Dysregulation of CNTNAP2 expression or function has been...



CNTNAP2

PGPEP1 (Pyroglutamyl-Peptidase I): PGPEP1 is a gene associated with an enzyme involved in the hydrolysis of pyroglutamate residues from the N-terminus of peptides and proteins. This enzymatic activity contributes to the degradation and recycling of peptides in various cellular processes....




PGPEP1

PHACTR2 (Phosphatase and Actin Regulator 2): PHACTR2 is a gene associated with the regulation of cellular processes, including cell signaling and cytoskeletal dynamics. It encodes a protein that interacts with protein phosphatase 1 (PP1) and actin, contributing to the control of actin filament organization and cell morphology. PHACTR2 is involved in processes like cell migration and may play a role in neuronal development....




PHACTR2

IL17RA (Interleukin 17 Receptor A): IL17RA is a part of the receptor complex for interleukin 17 (IL-17), a cytokine that plays a significant role in mediating inflammatory and immune responses. IL17RA signaling is crucial for the defense against extracellular pathogens and is involved in the pathogenesis of several autoimmune and inflammatory diseases, such as psoriasis, rheumatoid arthritis, and ankylosing spondylitis. Therapeutic targeting of IL17RA and the IL-17 pathway is an area of active research for treating these conditions....

IL17RA

POLM (DNA Polymerase Mu): POLM encodes a DNA polymerase enzyme involved in DNA repair processes, particularly in non-homologous end joining (NHEJ) repair pathways. It plays a role in maintaining genomic stability and preventing mutations. Mutations in POLM can increase the risk of genomic instability and cancer....

POLM

CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator in the stress response. It's involved in the hypothalamic-pituitary-adrenal axis, affecting stress, mood, and behavior. Dysregulation of CRHR1 is implicated in psychiatric disorders, including depression and anxiety....



CRHR1

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

POLR3A (RNA Polymerase III Subunit A): POLR3A is a critical component of RNA polymerase III, the enzyme responsible for synthesizing small RNAs, including tRNAs, 5S rRNA, and other non-coding RNAs. POLR3A is essential for the transcription of genes involved in protein synthesis and various cellular processes. Mutations in POLR3A have been linked to neurological diseases and developmental disorders, underscoring its importance in cellular function and human health....




POLR3A

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

POM121 (POM121 Membrane Glycoprotein): POM121 is a component of the nuclear pore complex, which regulates the transport of molecules between the nucleus and the cytoplasm. It plays a role in nuclear envelope formation and cell cycle progression. Dysfunctions in POM121 can impact nuclear-cytoplasmic transport and cellular homeostasis....

POM121

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

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

IL1B (Interleukin 1 Beta): IL1B is a key cytokine in the inflammatory response, involved in a wide range of immune responses. It activates and recruits immune cells to sites of infection or injury and is involved in fever induction. Dysregulation of IL1B is associated with several chronic inflammatory and autoimmune conditions, including rheumatoid arthritis, gout, and sepsis. As a potent mediator of inflammation, IL1B is a target for various anti-inflammatory drugs....

IL1B

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

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

KAT2B (Lysine Acetyltransferase 2B): KAT2B, also known as PCAF, is involved in histone acetylation, a key process in regulating gene expression. It plays a role in various cellular processes, including DNA repair, cell cycle progression, and apoptosis. KAT2B is implicated in the regulation of transcription and chromatin remodeling, with relevance to cancer and developmental disorders....

KAT2B

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

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

IL23R (Interleukin 23 Receptor): IL23R is a gene encoding the receptor for interleukin-23 (IL-23), a cytokine involved in immune regulation. The IL23R receptor is primarily found on immune cells, and its activation is important for the differentiation and function of T helper 17 (Th17) cells, which play a role in inflammatory responses and autoimmune diseases....

IL23R

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

KAT6B (Lysine Acetyltransferase 6B): KAT6B, also known as MYST4 or MORF, is a histone acetyltransferase involved in chromatin remodeling and transcriptional regulation. It plays a significant role in development, cell cycle progression, and DNA repair. Mutations in KAT6B are associated with rare genetic disorders characterized by skeletal malformations and developmental delays, such as Genitopatellar syndrome and Ohdo syndrome....

KAT6B

ST6GAL1 (ST6 Beta-Galactoside Alpha-2,6-Sialyltransferase 1): This gene is involved in the process of adding sialic acid to proteins (glycoproteins). Its function is critical in cellular recognition and signaling processes. Changes in the activity of ST6GAL1 have been linked to various diseases, including cancer and autoimmune disorders....



ST6GAL1

PON1 (Paraoxonase 1): PON1 is an enzyme associated with high-density lipoprotein (HDL) and is involved in the hydrolysis of organophosphates and lipid peroxides. It plays a role in preventing LDL oxidation, and variations in PON1 are linked to cardiovascular disease risk....




PON1

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

IL2RA (Interleukin 2 Receptor Alpha): IL2RA, also known as CD25, is part of the receptor complex for interleukin-2, a cytokine that plays a central role in T-cell proliferation and differentiation. This receptor is crucial for the regulation of the immune response, including the development and function of regulatory T cells that prevent autoimmune diseases. Dysregulation of IL2RA or its pathway can lead to autoimmune conditions and is a focus for immunotherapy, particularly in cancer and transplant medicine....

IL2RA

IL33 (Interleukin 33): IL33 is a cytokine that belongs to the IL-1 family, acting as an alarm signal when released by cells under stress or injury. It binds to the ST2 receptor, triggering inflammatory responses and playing a key role in allergies, asthma, and other types of inflammatory diseases. Research into IL33 focuses on its dual role in promoting inflammation and in protecting against diseases, with potential for therapeutic interventions in chronic inflammation and immune dysregulation....

IL33

CSDC2 (Cold Shock Domain Containing C2): CSDC2 is a protein implicated in RNA binding and regulation of gene expression. It is thought to be involved in cellular responses to environmental stresses, particularly temperature changes. The specific roles of CSDC2 in human health and disease are still being explored....



CSDC2

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

KAZN (Kazrin, Periplakin Interacting Protein): KAZN, a less characterized protein, interacts with periplakin and is involved in cellular processes related to cytoskeletal organization and cell adhesion. It may play a role in skin integrity and wound healing, although its broader biological functions are still being explored....

KAZN

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....



APEH

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