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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

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....



ST6GAL1

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

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

GOLGA8B (Golgin A8 Family Member B): GOLGA8B is a member of the golgin family of proteins, involved in the structure and function of the Golgi apparatus. It plays a role in vesicle trafficking and cellular organization, although its specific functions are not fully understood....

GOLGA8B

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

SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene encoding an enzyme belonging to the sulfotransferase family. This enzyme is responsible for sulfating various compounds, including hormones, drugs, and xenobiotics. Sulfation reactions catalyzed by SULT2A1 are crucial for the metabolism and elimination of these compounds, contributing to detoxification processes in the body....



SULT2A1

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

GLIS1 (GLIS Family Zinc Finger 1): GLIS1 encodes a transcription factor involved in the regulation of gene expression in the development and function of various tissues, including the reproductive system and skin. It has been implicated in reprogramming somatic cells to pluripotent stem cells, suggesting its potential in regenerative medicine....

GLIS1

UBQLN2, also known as Ubiquilin-2, is a protein involved in the ubiquitin-proteasome system (UPS), a crucial pathway for protein degradation within cells. It belongs to the ubiquilin family of proteins, which are characterized by containing ubiquitin-like (UBL) and ubiquitin-associated (UBA) domains that facilitate interactions with ubiquitinated proteins and proteasome components. One of the primary functions of UBQLN2 is its role in protein quality control and degradation. UBQLN2 acts as a shuttle factor, facilitating the delivery of ubiquitinated proteins to the proteasome for degradation. It binds to ubiquitinated proteins through its UBA domain and interacts with components of the proteasome, promoting the...




UBQLN2

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

SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule involved in the development of cardiovascular and lymphatic systems. It plays a role in cell-cell interactions and signaling pathways that are crucial for vascular integrity and immune responses. Alterations in SVEP1 are linked to cardiovascular diseases and may have implications in immune system disorders....



SVEP1

C1QTNF6 (C1q And TNF Related 6): C1QTNF6 is a member of the C1q/tumor necrosis factor-related protein family, involved in modulating inflammatory responses, adipose tissue metabolism, and cell survival pathways. It plays a role in the regulation of insulin sensitivity and energy homeostasis, with emerging evidence suggesting its contribution to metabolic syndromes, including obesity and diabetes. The function of C1QTNF6 in inflammation and metabolism highlights its potential impact on chronic disease development....



C1QTNF6

SYCP2L (Synaptonemal Complex Protein 2-Like): SYCP2L is involved in meiosis, playing a role in the formation of the synaptonemal complex, which is essential for the pairing and recombination of homologous chromosomes. It's important in understanding the mechanisms of genetic recombination and fertility, with potential implications in reproductive biology and disorders....



SYCP2L

CASS4 (Cas Scaffolding Protein Family Member 4): CASS4 is a member of the CAS family of scaffolding proteins, involved in integrin signaling and cell migration. It plays a crucial role in the dynamic reorganization of the cytoskeleton, promoting cell movement and invasion. CASS4's involvement in signaling pathways related to cell migration and its association with the extracellular matrix make it relevant in cancer metastasis and immune cell function, highlighting its role in cellular dynamics and disease progression....



CASS4

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

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumor suppressor gene that encodes two proteins, p16INK4A and p14ARF, which play roles in cell cycle regulation and tumor suppression. Mutations in CDKN2A are associated with an increased risk of various cancers, including melanoma and pancreatic cancer. ...



CDKN2A

SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is implicated in the formation and differentiation of synapses in the nervous system. It plays a crucial role in synaptic plasticity and neuronal communication, which are fundamental for learning and memory....



SYNDIG1

SYT13 (Synaptotagmin 13): SYT13 is a member of the synaptotagmin gene family, which is involved in synaptic vesicle trafficking and neurotransmitter release in neurons. It contributes to the regulation of synaptic transmission and neuronal communication....



SYT13

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

PCDH15 (Protocadherin 15): PCDH15 encodes a member of the protocadherin family, which is involved in cell-cell adhesion and neuronal connectivity. PCDH15 is crucial for the function of sensory hair cells in the inner ear and is associated with hearing impairment and deafness....




PCDH15

KISS1R (Kisspeptin Receptor): KISS1R, also known as GPR54, is a receptor crucial for the activation of the hypothalamic-pituitary-gonadal axis, playing a pivotal role in the onset of puberty and fertility. It binds to kisspeptin, a neuropeptide that stimulates the release of gonadotropin-releasing hormone, thereby influencing reproductive hormone levels. Mutations in KISS1R can lead to hypogonadotropic hypogonadism, a condition characterized by delayed or absent puberty and reproductive dysfunction. The receptor is also implicated in the regulation of metabolic processes and has been studied in the context of tumor suppression....

KISS1R

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

KIZ (Kizuna Centrosomal Protein): KIZ encodes a protein involved in centrosome integrity and spindle formation during cell division. It is important for maintaining genomic stability, and disruptions in KIZ function can contribute to developmental disorders and cancer....

HOMER1 (Homer Scaffold Protein 1): HOMER1 is a scaffolding protein involved in the regulation of calcium signaling in neurons and muscle cells. It plays a crucial role in synaptic plasticity, neuronal development, and excitation-contraction coupling in muscle. Alterations in HOMER1 expression have been linked to neurological disorders, such as schizophrenia and epilepsy, highlighting its significance in neural communication and brain function....

HOMER1

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

TAMM41 (TAM41 Mitochondrial Translocator Assembly and Maintenance Protein): TAMM41 is involved in phospholipid biosynthesis within mitochondria, playing a crucial role in mitochondrial membrane maintenance and function. It is essential for the proper assembly and operation of the mitochondrial electron transport chain, affecting cellular energy production. Research into TAMM41 focuses on its role in mitochondrial physiology and its implications for metabolic disorders and mitochondrial diseases....



TAMM41

KL (Klotho): KL encodes the klotho protein, which is involved in aging and longevity. Klotho has been associated with the regulation of calcium and phosphate metabolism, as well as its role in suppressing aging-related processes. This gene is of great interest in aging research and may hold clues to extending human lifespan and improving age-related health....

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

KCTD9 (Potassium Channel Tetramerization Domain Containing 9): KCTD9 is a gene associated with a domain involved in protein-protein interactions and the assembly of protein complexes. It may play a role in the formation or regulation of protein complexes related to ion channel function or other cellular processes....

KCTD9

STK32A (Serine/Threonine Kinase 32A): STK32A encodes a serine/threonine kinase, a type of enzyme that modifies other proteins by chemically adding phosphate groups. These kinases are involved in various cellular processes, including signaling, cell cycle control, and apoptosis. The specific role of STK32A in these processes remains an area of active research, with implications for understanding cell regulation and potential roles in diseases like cancer....



STK32A

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

KLF14 (Krüppel-Like Factor 14): KLF14 is a transcription factor belonging to the Krüppel-like factor family, which plays a significant role in regulating gene expression patterns involved in various cellular processes. KLF14 is particularly notable for its involvement in metabolic regulation and adipogenesis. It acts as a key regulator of adipocyte differentiation and lipid metabolism, influencing both the storage and utilization of fats within the body. Additionally, KLF14 has been implicated in glucose homeostasis and insulin sensitivity, indicating its broader importance in metabolic health. Dysregulation of KLF14 expression has been associated with metabolic disorders such as obesity, type 2 diabetes, and...

KLF14

KDSR (3-Ketodihydrosphingosine Reductase): KDSR is an enzyme involved in sphingolipid metabolism. It catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine, a precursor in the synthesis of ceramides and sphingolipids. Proper sphingolipid metabolism is crucial for cell membrane structure and signaling....

KDSR

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

KEL (Kell Blood Group): KEL is associated with blood group antigens and is involved in blood transfusion compatibility. It plays a crucial role in antigenic determinants on the surface of red blood cells, influencing transfusion reactions and compatibility assessments....

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

STK39 (Serine/Threonine Kinase 39): STK39 is a kinase involved in regulating ion transport and cellular volume, particularly in response to osmotic stress. It has been studied in relation to hypertension and kidney function, as it influences sodium and chloride reabsorption in the kidneys....



STK39

CDK6 (Cyclin-Dependent Kinase 6): CDK6, in complex with D-type cyclins, plays a pivotal role in regulating cell cycle progression, particularly the transition from the G1 to S phase. It is essential for cellular proliferation and differentiation. Dysregulation of CDK6 activity has been linked to various cancers, making it a target for cancer therapy, especially in malignancies characterized by CDK6 overexpression or dysregulation....



PALM

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