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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

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

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....




PPARA

INHBC (Inhibin Beta C Subunit): INHBC is a part of the activin-inhibin family, which regulates various functions including reproduction, cell growth, and differentiation. It is involved in the regulation of the follicle-stimulating hormone (FSH). Dysregulation of INHBC can have implications in reproductive health and certain cancers....

INHBC

TYR (Tyrosinase): TYR is an enzyme crucial in the melanin biosynthesis pathway, responsible for the initial steps of converting tyrosine into melanin pigments. Melanin is essential for coloration in the skin, hair, and eyes, and plays a protective role against UV radiation. Mutations in TYR are associated with albinism, a condition characterized by a deficiency or absence of melanin, leading to visual problems and increased skin cancer risk. TYR's function in pigmentation underscores its importance in protecting against UV-induced damage and in normal visual system development. ...




CHRM3 (Cholinergic Receptor Muscarinic 3): CHRM3 is a receptor for acetylcholine, involved in various physiological functions, including smooth muscle contraction and glandular secretion. Dysregulation of CHRM3 is implicated in disorders like asthma and overactive bladder syndrome....



CHRM3

INPPL1 (Inositol Polyphosphate Phosphatase-Like 1): INPPL1, also known as SHIP2 (Src Homology 2 domain-containing Inositol Phosphatase 2), is a phosphatase that plays a crucial role in the regulation of phosphoinositide signaling pathways, which are integral to various cellular processes such as proliferation, survival, and migration. This enzyme specifically dephosphorylates the 5' position of the inositol ring in phosphatidylinositol 3,4,5-trisphosphate (PIP3), thereby acting as a negative regulator of the PI3K (phosphoinositide 3-kinase) signaling pathway. INPPL1's activity is implicated in the modulation of insulin signaling and glucose homeostasis, making it a significant player in metabolic regulation and a potential target for the...

INPPL1

PDE8B (Phosphodiesterase 8B): PDE8B is another gene that encodes a phosphodiesterase enzyme, specifically phosphodiesterase 8B. Like PDE10A, it regulates cyclic nucleotide signaling, but its functions may vary across different tissues and cell types. PDE8B may have implications in various physiological processes....

PDE8B

GPR139, also known as G protein-coupled receptor 139, is a protein that belongs to the G protein-coupled receptor (GPCR) superfamily. It is primarily expressed in the central nervous system, particularly in regions associated with the regulation of neurotransmitter systems and neuronal activity. Although the specific functions of GPR139 are still being elucidated, it is believed to play a role in modulating neurotransmission, particularly in the regulation of dopamine and glutamate signaling. Studies have suggested that GPR139 may function as an inhibitory receptor, as its activation leads to decreased cAMP (cyclic adenosine monophosphate) levels and reduced neuronal excitability. Moreover, GPR139 has been implicated...

GPR139

PPARGC1B (Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-Beta): PPARGC1B is a coactivator of the PPARγ receptor, playing a significant role in energy metabolism. It is involved in the regulation of genes associated with energy production, such as those involved in mitochondrial biogenesis and fatty acid metabolism. This gene is pivotal in metabolic processes and has been linked to conditions like obesity and diabetes....

PPARGC1B

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP, also known as ALIX, is involved in a range of cellular processes, including endocytosis, membrane repair, and cell death pathways. It plays a crucial role in the formation of multivesicular bodies and in the budding of enveloped viruses, like HIV. Dysfunctions in PDCD6IP are linked to neurodegenerative diseases and cancer due to its role in autophagy and apoptosis, highlighting its importance in cellular homeostasis and response to cellular stress....

PDCD6IP

FBXO24 (F-Box Protein 24): FBXO24 is part of the F-box protein family, which plays a role in protein degradation via the ubiquitin-proteasome system. It is involved in cell cycle regulation and protein turnover, but its specific physiological functions and implications in diseases are not fully elucidated....

FBXO24

PPFIA2 (PTPRF Interacting Protein Alpha 2): PPFIA2 is a member of the liprin family and plays a role in cell communication and adhesion. It's involved in the regulation of synaptic formation and maintenance, particularly in the central nervous system. The protein influences the development and plasticity of neural networks, and alterations in its function may contribute to neurological disorders....

PPFIA2

ZSCAN31 (Zinc Finger And SCAN Domain Containing 31): ZSCAN31 is a member of the zinc finger protein family, which is involved in DNA binding and gene transcription regulation. While specific functions of ZSCAN31 are still being elucidated, zinc finger proteins play significant roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZSCAN31 focuses on understanding its contribution to genetic regulation and its potential link to diseases, including its role in chromosomal stability and cancer....




ZSCAN31

KCNK9 (Potassium Two Pore Domain Channel Subfamily K Member 9): KCNK9 encodes a member of the potassium channel family, specifically a two-pore-domain potassium channel. These channels are involved in setting the resting membrane potential and regulating neuronal excitability. Mutations in KCNK9 have been associated with Birk-Barel mental retardation dysmorphism syndrome, highlighting its role in neural development and function....

KCNK9

UBL3 (Ubiquitin-Like 3): UBL3 encodes a protein that is similar to ubiquitin, a key player in the protein degradation pathway. It is involved in protein modification and has been implicated in cellular processes like signal transduction and membrane trafficking. Dysregulation of UBL3 may have implications in various cellular dysfunctions....

UBL3

PLAUR (Plasminogen Activator, Urokinase Receptor): PLAUR, or urokinase plasminogen activator receptor, plays a crucial role in the regulation of proteolysis and cell migration. It is involved in tissue remodeling and wound healing processes by facilitating the conversion of plasminogen to plasmin, a serine protease that degrades fibrin and other extracellular matrix components. Overexpression of PLAUR has been linked to tumor invasion and metastasis, emphasizing its significance in cancer progression and as a potential therapeutic target....




PLAUR

ZNF816 (Zinc Finger Protein 816): ZNF816 belongs to the family of zinc finger proteins, which are involved in DNA binding and gene transcription regulation. Although specific functions of ZNF816 are less characterized, zinc finger proteins play crucial roles in developmental processes, cellular differentiation, and the regulation of gene expression. Research on ZNF816 and similar proteins aims to uncover their contributions to cellular processes and their potential links to diseases, including cancer and genetic disorders....

ZNF816

CSNK1G1 (Casein Kinase 1 Gamma 1): CSNK1G1 is part of the casein kinase 1 family, involved in various cellular processes including cell division, circadian rhythms, and Wnt signaling. Its role in Wnt signaling makes it relevant in developmental processes and potentially in cancer biology....



CSNK1G1

IRF8 (Interferon Regulatory Factor 8): IRF8 is a gene encoding a transcription factor that is important for the development and function of immune cells, including dendritic cells and macrophages. IRF8 regulates the expression of genes involved in immune responses and antigen presentation. Mutations in IRF8 can impact immune cell differentiation and function....

IRF8

IRS1 (Insulin Receptor Substrate 1): IRS1 is a pivotal signaling molecule involved in mediating the cellular response to insulin and various growth factors. It acts as an adaptor protein, linking activated insulin receptors to downstream signaling pathways. Through its interaction with multiple intracellular signaling molecules, IRS1 regulates key cellular processes such as glucose uptake, glycogen synthesis, protein synthesis, and cell growth and proliferation. Dysregulation of IRS1 signaling is implicated in insulin resistance, a hallmark of type 2 diabetes and other metabolic disorders, as well as in cancer and cardiovascular diseases. The intricate network of IRS1-mediated signaling pathways underscores its significance...

IRS1

KCNK2 (Potassium Two Pore Domain Channel Subfamily K Member 2): KCNK2 encodes a protein that forms part of a potassium channel, which plays a significant role in setting the electrical activity of neurons. These channels are involved in regulating neuronal excitability and are important for various physiological processes, including the regulation of sleep and anesthesia. Dysfunctions or mutations in KCNK2 have been implicated in neurological disorders, such as epilepsy and paroxysmal movement disorders....

KCNK2

IRX2 (Iroquois Homeobox 2): IRX2 is a transcription factor part of the Iroquois homeobox gene family, playing a significant role in embryonic development. It's involved in the patterning and morphogenesis of various tissues, including the heart and neural tissues. Dysregulation of IRX2 has been implicated in developmental disorders and potentially in cancer....

IRX2

CSMD3 (CUB And Sushi Multiple Domains 3): Similar to CSMD1, CSMD3 encodes a protein that participates in cell adhesion and signaling. It is also involved in immune response regulation and neuronal development. Research into CSMD3 is significant for understanding its role in diseases such as cancer and neurodevelopmental disorders....



CSMD3

IRX6 (Iroquois Homeobox 6): IRX6 is part of the Iroquois homeobox gene family, which plays a crucial role in early development. As a transcription factor, it's involved in the patterning and morphogenesis of various organs and tissues, particularly in the heart and oral-facial regions. Disruptions in IRX6 can lead to developmental anomalies, and it is a gene of interest in studies of congenital disorders and craniofacial development....

IRX6

FBXO8 (F-Box Protein 8): FBXO8 is part of the F-box family of proteins, which play critical roles in the ubiquitin-proteasome pathway, a system crucial for protein degradation and turnover in cells. As an F-box protein, FBXO8 is likely involved in targeting specific proteins for degradation, thereby regulating various cellular processes including cell cycle, signal transduction, and immune responses. The exact substrates and physiological functions of FBXO8 are not fully understood, but its involvement in protein degradation suggests its potential impact on cellular homeostasis and disease states, particularly in conditions where protein aggregation or misfolding is a concern, such as neurodegenerative...

FBXO8

CSMD1 (CUB and Sushi Multiple Domains 1): CSMD1 is a gene implicated in neural development and functioning. It is thought to play a role in the immune system and in synaptic plasticity. Genetic studies have associated CSMD1 with neuropsychiatric disorders, including schizophrenia and cognitive functions....



CSMD1

ISCA2 (Iron-Sulfur Cluster Assembly 2): ISCA2 is involved in the assembly of iron-sulfur clusters, which are critical for mitochondrial function and cellular energy production. Mutations in ISCA2 can lead to mitochondrial disorders, affecting energy metabolism in cells and causing a range of clinical symptoms....

ISCA2

BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase): BRAF is a key player in the MAPK/ERK signaling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in BRAF are implicated in various cancers, including melanoma, thyroid cancer, and colorectal cancer. BRAF mutations are also involved in certain non-cancerous conditions, such as cardiofaciocutaneous syndrome, which affects the heart, facial features, and skin....



BRAF

STAT3 (Signal Transducer and Activator of Transcription 3): STAT3 is a critical transcription factor involved in various cellular processes, including cell growth, differentiation, and apoptosis. It plays a significant role in the immune response and is heavily implicated in cancer biology, with dysregulation of STAT3 being linked to a variety of cancers and other diseases....



STAT3

ISL1 (ISL LIM Homeobox 1): ISL1 is a transcription factor that plays a crucial role in the development of various tissues, including the heart, motor neurons, and sensory neurons. It is involved in the differentiation and maintenance of these cell types during embryonic development and in adults. Mutations in ISL1 can lead to congenital heart defects and other developmental abnormalities....

ISL1

CSK (C-Src Tyrosine Kinase): CSK is a key regulatory enzyme that phosphorylates and thereby inhibits Src family tyrosine kinases, crucial components in signaling pathways for cell growth, differentiation, and survival. Dysregulation of CSK activity can lead to aberrant cellular signaling, contributing to the development of cancer and other diseases. Understanding CSK's regulatory mechanisms provides insights into the control of cell signaling and offers potential avenues for therapeutic intervention in diseases driven by tyrosine kinase dysregulation....



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

PLEKHM1

GRINA (Glia Derived Nexin): GRINA is a protein that is thought to play a critical role in the central nervous system, particularly in neuroprotection and the regulation of neuronal excitability. It is part of a larger complex involved in the modulation of NMDA (N-methyl-D-aspartate) receptors, which are essential for synaptic plasticity, memory formation, and learning. The function of GRINA is associated with its ability to influence the activity of these receptors, potentially affecting neurodevelopmental processes and neural response mechanisms. Dysregulation of GRINA has been linked to various neurological disorders, including Alzheimer's disease, epilepsy, and schizophrenia, suggesting its involvement in the...

GRINA

PLN (Phospholamban): Phospholamban is a regulatory protein primarily found in cardiac muscle cells, where it plays a crucial role in the regulation of cardiac contractility and relaxation. This small transmembrane protein modulates the activity of the sarcoplasmic reticulum calcium ATPase (SERCA), which is responsible for pumping calcium ions back into the sarcoplasmic reticulum during cardiac relaxation. By inhibiting SERCA at baseline conditions, PLN helps maintain calcium homeostasis and prevents excessive calcium uptake during diastole. However, upon stimulation, PLN is phosphorylated, relieving its inhibitory effect on SERCA and enhancing calcium reuptake, thereby promoting cardiac muscle relaxation and ensuring efficient cardiac function....

POU5F2 (POU Class 5 Homeobox 2): POU5F2 is a transcription factor belonging to the POU family, known for their roles in developmental processes and cell type-specific gene expression. The specific functions of POU5F2 are not well characterized but may involve regulation of gene expression in certain developmental or cellular contexts....

POU5F2

PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene related to phospholipid metabolism and signaling pathways. Phospholipids are essential components of cell membranes and are involved in various cellular processes, including cell signaling and membrane dynamics. PLPPR4 may play a role in regulating the levels of specific phospholipids, potentially impacting cell function and membrane properties....

PLPPR4

GP2 (Glycoprotein 2): GP2 is a membrane-bound protein primarily found in the pancreas and is involved in immune responses in the gastrointestinal tract. It is important for the binding and aggregation of bacteria, playing a role in protecting the gut from microbial invasion. Alterations in GP2 are studied in the context of pancreatic disorders and inflammatory bowel diseases....

IL5RA (Interleukin 5 Receptor Alpha): IL5RA is a component of the receptor for interleukin 5, a cytokine involved in the growth and differentiation of eosinophils. It plays a crucial role in immune responses, particularly in allergic reactions and asthma, where eosinophils are key effector cells. Targeting IL5RA is a therapeutic strategy for diseases characterized by eosinophilia, offering potential treatments for severe asthma and other eosinophil-associated disorders....

IL5RA

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is part of a family of proteins involved in the stabilization of the extracellular matrix and in inflammation. It plays a role in tissue remodeling and repair, and dysregulation of ITIH1 has been implicated in various inflammatory conditions and potentially in cancer....

ITIH1

CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1): This gene is involved in the biosynthesis of chondroitin sulfate, a key component of the extracellular matrix in cartilage. It plays an important role in cartilage formation and joint function, and alterations in its activity are associated with skeletal disorders and joint diseases....



CSGALNACT1

ITIH3 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 3): ITIH3 is a component of the inter-alpha-trypsin inhibitor family, involved in extracellular matrix stabilization and inflammation modulation. It plays a role in tissue repair and protection against protease-mediated tissue damage. Dysregulation of ITIH3 has been linked to cancer progression and inflammatory diseases, highlighting its importance in tissue homeostasis and the inflammatory response....

ITIH3

PMM1 (Phosphomannomutase 1): PMM1 is an enzyme in the mannose pathway, critical for glycosylation, a process essential for proper function and stability of many proteins. Mutations in PMM1 can lead to congenital disorders of glycosylation, affecting multiple systems, including neurological and immune functions....




PMM1

IL4R (Interleukin 4 Receptor): IL4R is the receptor for interleukin 4 (IL4), a cytokine involved in the differentiation of naive T cells into Th2 cells, promoting B cell proliferation, and antibody production. IL4R signaling is critical for the development and regulation of allergic responses, including the production of IgE. Dysregulation of IL4R signaling has been implicated in the pathogenesis of asthma, atopic dermatitis, and other allergic conditions, making it a target for therapeutic intervention....

IL4R

PNKD (PNKD Serine/Threonine Kinase): PNKD is a gene that encodes a serine/threonine kinase, a type of enzyme involved in phosphorylation reactions. Mutations in the PNKD gene have been linked to a neurological disorder known as paroxysmal nonkinesigenic dyskinesia (PNKD). PNKD is characterized by sudden and involuntary movements, and the PNKD gene's function appears to be crucial in maintaining proper neuronal activity and movement control....

PNKD

UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in the response to cellular stress and in the regulation of protein turnover, which is vital for maintaining cellular health and preventing diseases....




UBXN2A

IL34 (Interleukin 34): IL34 is a cytokine involved in the regulation of immune responses. It plays a role in the differentiation and survival of certain types of myeloid cells, including macrophages. Abnormal IL34 expression has been associated with inflammatory diseases, autoimmune disorders, and cancer....

IL34

STARD3 (StAR-Related Lipid Transfer Domain Containing 3): STARD3 is involved in cholesterol trafficking and homeostasis within cells, particularly between endosomes and the plasma membrane or endoplasmic reticulum. It belongs to the START domain family, known for sterol and lipid transport. Alterations in STARD3 function can affect cellular cholesterol distribution, potentially impacting processes such as membrane composition, signaling, and the development of atherosclerosis....



STARD3

JAG1 (Jagged 1): JAG1 is a key ligand in the Notch signaling pathway, involved in cell fate determination and tissue development. Mutations in JAG1 can lead to Alagille syndrome, a disorder affecting the liver, heart, and other organs. Its role in Notch signaling also implicates JAG1 in diverse processes, including vascular development, hematopoiesis, and cancer progression....

JAG1

PON2 (Paraoxonase 2): PON2 encodes an enzyme that belongs to the paraoxonase family, which plays a role in detoxification and antioxidant defense. PON2 is involved in the protection against oxidative stress and lipid peroxidation, making it relevant in cardiovascular health and other oxidative stress-related conditions....

PON2

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

JAKMIP2 (Janus Kinase And Microtubule Interacting Protein 2): JAKMIP2 is involved in the regulation of Janus kinase (JAK) signaling pathways, which are crucial for various cellular processes, including immune function and cell growth. Dysregulation of JAKMIP2 can impact immune responses and has potential implications in autoimmune disorders and cancers....

JAKMIP2

UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5): UBR5 is a gene that encodes an E3 ubiquitin ligase, which is involved in protein degradation via the ubiquitin-proteasome pathway. UBR5 plays a role in the regulation of protein stability and turnover. Dysfunctions in UBR5 can impact various cellular processes and have implications in cancer development and neurodegenerative diseases. Understanding UBR5 is significant for research into protein homeostasis and cellular quality control....




UBR5

JAZF1 (JAZF Zinc Finger 1): JAZF1 is associated with endometrial cancer and reproductive health. It plays a role in the regulation of gene expression and cellular processes in the endometrium....

JAZF1

JCAD (Junctional Cadherin 5 Associated): JCAD plays a role in cell adhesion and vascular development. It's implicated in endothelial cell function and is important for maintaining vascular integrity. Alterations in JCAD have been linked to cardiovascular diseases and could have implications in tumor angiogenesis, highlighting its importance in cardiovascular research and oncology....

JCAD

POLK (DNA Polymerase Kappa): POLK, a member of the Y-family DNA polymerases, is crucial for translesion DNA synthesis, a process that allows DNA replication to continue past DNA lesions such as UV-induced pyrimidine dimers or bulky chemical adducts. It plays a specialized role in accurately replicating damaged DNA, thereby preventing the stalling of replication forks and the formation of potentially mutagenic double-strand breaks. POLK's unique ability to replicate through lesions that would otherwise stall replicative polymerases ensures genome stability and integrity. However, its error-prone nature can also lead to mutagenesis, making it a double-edged sword in DNA repair processes. Dysregulation...

POLK

JHY (Jellybean Homologue Y): JHY, analogous to its namesake in the Matrix Metallopeptidase family, is a pivotal player in cellular processes, albeit in a distinct context. This protein is fundamental in orchestrating intracellular signaling cascades that regulate crucial aspects of cell behavior and function. Through its involvement in signal transduction pathways, JHY influences diverse physiological phenomena, ranging from cell proliferation and differentiation to cell migration and survival. The intricate control exerted by JHY on cellular activities underscores its significance in maintaining proper cellular homeostasis. However, aberrations in JHY expression or function have been implicated in various pathological conditions, including cancer...

STEAP2 (Six-Transmembrane Epithelial Antigen of the Prostate 2): STEAP2, a transmembrane protein, plays a role in cellular iron homeostasis. It orchestrates the transport of iron across cell membranes, impacting the availability of iron for various cellular processes. Its involvement in iron regulation and its potential implications in iron-related disorders have made STEAP2 a subject of interest in the field of iron metabolism and cellular physiology....



STEAP2

KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is part of a family of proteins that are known to interact with potassium channels, influencing their activity. These proteins play roles in various cellular functions, including signal transduction and ion transport. Mutations in KCTD1 have been linked to developmental disorders, particularly affecting the skin and hair....

KCTD1

PPIL1 (Peptidylprolyl Isomerase Like 1): PPIL1 is a member of the cyclophilin family of peptidylprolyl isomerases, enzymes that catalyze the cis-trans isomerization of proline imide bonds in polypeptides, thus facilitating protein folding and assembly. This enzymatic activity is crucial for various cellular processes, including signal transduction, transcriptional regulation, and cell cycle progression. PPIL1 is involved in the folding and function of proteins, contributing to the maintenance of cellular homeostasis and response to stress. It participates in several protein complexes and plays roles in the splicing of pre-mRNA, aiding in the precise regulation of gene expression. The involvement of PPIL1 in...

PPIL1

STIM1 (Stromal Interaction Molecule 1): STIM1 is a key regulator of calcium entry into cells, playing a crucial role in calcium signaling and homeostasis. It is important in various cellular processes, including muscle contraction, gene expression, and cell growth. Mutations in STIM1 are associated with immune dysfunction and muscle disorders....



STIM1

STK17A (Serine/Threonine Kinase 17A): STK17A encodes a protein kinase involved in regulating cell death (apoptosis) and cell survival. It plays a role in various cellular processes, including the response to cellular stress and DNA damage. Dysregulation of STK17A can impact cell survival and contribute to diseases like cancer....



STK17A

KIF17 (Kinesin Family Member 17): KIF17 is a motor protein that transports cargo along microtubules, playing a key role in intracellular transport, particularly in neurons. It is involved in the anterograde transport of molecules such as NMDA receptors to synaptic sites, affecting synaptic plasticity and memory formation. Dysregulation of KIF17 has been linked to neurological disorders, underscoring its importance in neuron function and health....

KIF17

KIF26B (Kinesin Family Member 26B): KIF26B is a member of the kinesin family, proteins that are motor molecules involved in the transport of cellular cargo along microtubules. It plays a role in developmental processes, including kidney and limb development, through the regulation of morphogenetic movements and signal transduction pathways. Mutations or dysregulation of KIF26B can lead to developmental abnormalities, making it a focus for understanding congenital disorders....

KIF26B

KIF2B (Kinesin Family Member 2B): KIF2B is involved in microtubule dynamics, crucial for chromosome segregation during cell division. It is a member of the kinesin motor protein family, which is important for intracellular transport and cell motility. Dysfunctions in KIF2B can lead to mitotic abnormalities and have implications in cancer....

KIF2B

SUGCT (Succinyl-CoA:Glutarate-CoA Transferase): SUGCT is involved in the metabolism of glutarate, playing a role in the tricarboxylic acid (TCA) cycle. It is important in energy production and amino acid metabolism. Dysfunctions in SUGCT can lead to glutaric aciduria type III, a metabolic disorder affecting energy production....



SUGCT

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

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

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....



ADARB1

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