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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

MGMT (O-6-Methylguanine-DNA Methyltransferase): MGMT is a DNA repair enzyme that removes alkyl groups from the O6 position of guanine, helping to prevent mutations and maintain genomic stability. It protects cells from the harmful effects of alkylating agents and is a key factor in resistance to certain chemotherapy drugs. In cancers such as gliomas, MGMT expression can influence treatment response and is a significant focus of cancer research.

MGMT

IKBIP (Inhibitor of Kappa Light Polypeptide Gene Enhancer in B-Cells, Inhibitor Protein): IKBIP is a protein involved in the negative regulation of the NF-κB signalling pathway. This pathway is essential for immune response, inflammation, and cell survival. IKBIP functions by inhibiting NF-κB activity in the cytoplasm, preventing its movement to the nucleus and the activation of specific target genes. Dysregulation of NF-κB signalling through IKBIP is linked to autoimmune diseases, chronic inflammation, and cancer, highlighting its key role in controlling immune and inflammatory processes.

IKBIP

KIZ (Kizuna Centrosomal Protein): KIZ is a gene that encodes a protein essential for centrosome integrity and spindle formation during cell division. It plays a key role in maintaining genomic stability, and disruptions in its function have been linked to developmental disorders and cancer.

METTL21C (Methyltransferase Like 21C): METTL21C is a member of the methyltransferase family, enzymes that transfer methyl groups to various substrates. Although its specific functions are not yet fully understood, it may play a role in the post-translational modification of proteins, affecting a range of cellular processes.

METTL21C

FZD1 (Frizzled Class Receptor 1): FZD1 is a member of the frizzled receptor family, which are key components of the Wnt signalling pathway. This pathway plays a central role in development, tissue regeneration, and cancer progression. As a Wnt receptor, FZD1 helps regulate cellular responses to Wnt ligands, influencing important biological processes and holding potential implications in disease mechanisms.

FZD1

KRTAP7-1 (Keratin Associated Protein 7-1): KRTAP7-1 is a member of the keratin-associated protein family, contributing to the structure and properties of hair fibres. It plays an important role in determining hair texture and strength. Variations in KRTAP7-1 and other keratin-associated proteins can influence hair characteristics and are significant in the study of hair and scalp disorders.

KRTAP7-1

SGK1 (Serum/Glucocorticoid Regulated Kinase 1): SGK1 is a serine/threonine kinase regulated by glucocorticoids, involved in cell survival, ion transport, and metabolic regulation. It aids the body’s response to stress and regulates ion channel activity, especially in the kidneys, affecting sodium and water balance. Dysregulation of SGK1 has been associated with hypertension, diabetic nephropathy, and certain cancers.

SGK1

CHRM2 (Cholinergic Receptor Muscarinic 2): CHRM2 is a member of the muscarinic cholinergic receptor family, which plays a crucial role in mediating the effects of acetylcholine in both the central and peripheral nervous systems. This G protein-coupled receptor is involved in important physiological processes such as heart rate regulation, smooth muscle contraction, and cognitive functions. CHRM2 significantly influences cardiovascular control by contributing to the reduction of heart rate and decreasing cardiac contractility. In the brain, it is linked to memory, learning, and may be implicated in certain neurological disorders.

CHRM2

PEX2 (Peroxisomal Biogenesis Factor 2): PEX2 is a gene essential for the formation and maintenance of peroxisomes — cellular organelles involved in lipid metabolism and the detoxification of reactive oxygen species. Mutations in PEX2 can cause peroxisomal disorders, such as Zellweger syndrome, which is characterised by severe developmental and neurological impairments.

PEX2

KISS1R (Kisspeptin Receptor): KISS1R, also known as GPR54, is a receptor essential for activating the hypothalamic-pituitary-gonadal axis, which is crucial for the onset of puberty and fertility. It binds to kisspeptin, a neuropeptide that triggers the release of gonadotropin-releasing hormone and regulates reproductive hormone levels. Mutations in KISS1R can cause hypogonadotropic hypogonadism, a condition characterised by delayed or absent puberty and impaired reproductive function. The receptor is also involved in metabolic regulation and has been investigated for its potential role in tumour suppression.

KISS1R

PAX2 (Paired Box Gene 2): PAX2 is a key transcription factor in the paired box gene family that plays a vital role in the development of the kidneys and urinary tract. It acts early in embryonic stages to regulate tissue and organ formation, directing the development of the renal system, eye, ear, and central nervous system. By controlling cell proliferation, differentiation, and apoptosis, PAX2 contributes to the formation of essential structures within these systems. Abnormalities in PAX2 expression or function have been linked to congenital anomalies of the kidney and urinary tract (CAKUT), as well as other developmental disorders.

PAX2

CACHD1 (Cache Domain Containing 1): CACHD1 is a relatively under-characterised gene believed to be involved in ion channel regulation and neuronal signalling. It may affect synaptic transmission and contribute to overall nervous system function.

CACHD1

PTPRJ (Protein Tyrosine Phosphatase, Receptor Type J): PTPRJ is a member of the protein tyrosine phosphatase (PTP) family, enzymes that regulate cellular activity by removing phosphate groups from tyrosine residues on proteins. It negatively regulates cell proliferation and participates in signalling pathways that control growth and differentiation. Acting as a tumour suppressor in several cancers, PTPRJ helps prevent uncontrolled cell growth, and its loss of function has been associated with enhanced tumour development and progression.

PTPRJ

LRRC31 (Leucine-Rich Repeat-Containing Protein 31): LRRC31 is a gene that encodes a protein featuring leucine-rich repeats, structural motifs commonly involved in protein–protein interactions. Such proteins frequently participate in signalling pathways, immune responses, and other cellular functions. The specific roles of LRRC31 are still under investigation.

LRRC31

PCSK2 (Proprotein Convertase Subtilisin/Kexin Type 2): PCSK2 is an enzyme involved in processing precursor proteins into their biologically active forms. It plays a crucial role in the maturation of neuropeptides and hormones within neuroendocrine tissues. Dysregulation of PCSK2 can affect the synthesis of important signalling molecules, impacting processes such as the stress response, metabolism, and growth.

PCSK2

HTR2A (5-Hydroxytryptamine Receptor 2A): HTR2A is a receptor for serotonin, a neurotransmitter involved in regulating mood, anxiety, and cognition. It has been associated with several psychiatric disorders, including depression, schizophrenia, and anxiety disorders. Variations in HTR2A are commonly studied in psychopharmacology and psychiatric genetics.

HTR2A

PBRM1 (Polybromo 1): PBRM1 is a subunit of the SWI/SNF chromatin remodelling complex that helps regulate gene expression by modifying chromatin structure. It acts as a tumour suppressor, and mutations in PBRM1 have been linked to several cancers, especially clear cell renal cell carcinoma. Its role in chromatin remodelling is essential for preserving genomic integrity and supporting normal cell function.

PBRM1

TASP1 (Taspase, Threonine Aspartase 1): TASP1 is a gene that encodes a protease responsible for cleaving specific protein substrates. This protease plays a key role in protein processing and regulation, which is essential for maintaining cellular homeostasis. Research on TASP1 aims to understand its substrate specificity and how it influences cellular functions, particularly in cell cycle control and signalling pathways.

TASP1

PCNX3 (Pecanex Homolog 3): PCNX3 is a gene that is less well-characterised but is believed to play a role in cellular processes such as protein processing and trafficking. Its exact function in human physiology and pathology remains under investigation.

PCNX3

ZNF770 (Zinc Finger Protein 770) is a member of the zinc finger protein family, recognised for its roles in DNA binding and regulating gene transcription. ZNF770 is involved in controlling the expression of genes linked to metabolic pathways and has been studied for its potential impact on glucose metabolism and insulin sensitivity. Understanding ZNF770’s function may offer valuable insights into the mechanisms behind metabolic disorders such as diabetes.

ZNF770

PNPLA3 (Patatin-Like Phospholipase Domain Containing 3): PNPLA3 is a gene that encodes an enzyme known as adiponutrin or patatin-like phospholipase domain-containing protein 3. This enzyme plays a key role in lipid metabolism by hydrolysing triglycerides in adipocytes. Variations in the PNPLA3 gene are linked to liver conditions, including non-alcoholic fatty liver disease (NAFLD).

PNPLA3

NAV1 (Neuron Navigator 1): NAV1 is a member of the neuron navigator family, involved in neuronal development and axonal guidance. It plays a key role in the migration and morphogenesis of neurons, guiding the growth of axons towards their targets. NAV1’s function is essential for proper nervous system wiring, and disruptions in its activity can be associated with neurodevelopmental disorders and may affect nerve injury recovery.

NAV1

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 plays a role in regulating synaptic transmission and supports effective neuronal communication.

SYT13

POLR3A (RNA Polymerase III Subunit A): POLR3A is a key subunit of RNA polymerase III, the enzyme responsible for producing small RNAs such as tRNAs, 5S rRNA, and other non-coding RNAs. It plays an essential role in transcribing genes needed for protein synthesis and other vital cellular processes. Mutations in POLR3A have been associated with neurological diseases and developmental disorders, highlighting its critical importance to cellular function and human health.

POLR3A

PCDH20 (Protocadherin 20): PCDH20 is a member of the protocadherin family, a group of proteins involved in cell-to-cell adhesion and signalling, particularly within the nervous system. PCDH20 plays a vital role in neural development and connectivity, supporting the formation and maintenance of neural networks. Dysfunctions in PCDH20 have been associated with neurodevelopmental disorders and may affect cognitive and sensory functions.

PCDH20

UBQLN2, also known as Ubiquilin-2, is a protein involved in the ubiquitin–proteasome system (UPS), a crucial pathway for protein degradation in cells. It contains ubiquitin-like (UBL) and ubiquitin-associated (UBA) domains that facilitate interactions with ubiquitinated proteins and proteasome components. UBQLN2 acts as a shuttle factor, delivering ubiquitinated proteins to the proteasome for degradation and supporting protein quality control.

UBQLN2

METTL14 (Methyltransferase Like 14): METTL14 is a component of the complex responsible for N6-methyladenosine (m6A) RNA modification, a process essential for regulating RNA metabolism and function. Changes in METTL14 activity can influence gene expression and have been linked to the development of certain cancers.

METTL14

NSG2 (Neuron Specific Gene Family Member 2): NSG2 is a protein predominantly expressed in the brain. It may have a role in neuronal development and function. Although its precise functions in neural processes are not yet fully understood, NSG2 is thought to contribute to synaptic plasticity and neuronal signalling, which can affect cognitive and sensory functions.

NSG2

SDHAF3 (Succinate Dehydrogenase Complex Assembly Factor 3): SDHAF3 is a gene involved in the assembly of the succinate dehydrogenase complex, a crucial part of the mitochondrial electron transport chain. This protein helps to maintain the proper functioning of the complex, supporting efficient energy production. Mutations in SDHAF3 can disrupt mitochondrial activity and contribute to mitochondrial disorders, emphasising its significance in cellular health.

SDHAF3

C19ORF12 (Chromosome 19 Open Reading Frame 12): C19ORF12 is a gene located on chromosome 19 that encodes a protein with a currently unclear function. This protein is believed to be involved in maintaining mitochondrial integrity and metabolism. Its importance is highlighted by its association with neurodegeneration with brain iron accumulation (NBIA), specifically mitochondrial membrane protein-associated neurodegeneration (MPAN). C19ORF12 is thought to support mitochondrial function, possibly through roles in lipid metabolism or by protecting mitochondrial membranes from oxidative stress. Mutations in this gene have been linked to progressive neurological symptoms, such as motor dysfunction, cognitive decline, and iron accumulation in the brain.

C19ORF12

NOTCH4 (Notch Receptor 4): NOTCH4 is a member of the Notch receptor family, which plays a key role in cell-to-cell communication and regulation of cell fate during development. It is particularly important for vascular development and immune function. Disruptions in NOTCH4 signalling have been associated with developmental disorders, various diseases, and certain cancers.

NOTCH4

CFH (Complement Factor H): CFH is a gene that plays a key role in regulating the complement pathway, an important part of the body’s innate immune system. The complement system provides a rapid defence against microbial infections. CFH produces a protein that controls complement activity, helping to prevent damage to the body’s own cells. Mutations in the CFH gene are associated with diseases such as age-related macular degeneration (AMD), atypical haemolytic uraemic syndrome (aHUS), and certain kidney disorders. Studying CFH is essential for understanding these conditions and developing targeted therapies.

METTL11B (Methyltransferase-Like Protein 11B): METTL11B is a gene that encodes a protein with a methyltransferase-like domain. Although its precise functions are not yet fully known, this domain suggests a possible role in epigenetic regulation, RNA modification, or protein methylation. Current research is focused on clarifying its role in cellular processes and its potential impact on health and disease.

METTL11B

CDC42SE1 (CDC42 Small Effector 1): CDC42SE1 is a protein that functions downstream of the CDC42 GTPase and is involved in regulating the actin cytoskeleton and cell morphology. It plays significant roles in cell division and motility, and its dysregulation can impact cell proliferation and migration.

CDC42SE1

GYPC (Glycophorin C): GYPC is a gene that encodes glycophorin C, a protein found on the surface of red blood cells. This protein is a crucial component of the blood group antigen system and plays a vital role in determining blood type compatibility for transfusions. Understanding GYPC variants is essential in transfusion medicine.

GYPC

LRRTM4 (Leucine-Rich Repeat Transmembrane Neuronal 4): LRRTM4 encodes a transmembrane protein primarily expressed in neurones. It plays an important role in synaptic transmission and synaptic adhesion. Its localisation at synapses and interactions with other synaptic proteins highlight its significance in neural circuitry, neuronal connectivity, and potentially in neurodevelopmental disorders.

LRRTM4

PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha): PPP3CA is a gene that encodes the catalytic subunit alpha of protein phosphatase 3 (PP3), also known as calcineurin. Calcineurin is a calcium-dependent enzyme involved in signalling pathways that regulate immune responses and various cellular processes, including gene expression. The activity of PPP3CA plays a key role in dephosphorylating target proteins, thereby influencing multiple cellular functions.

PPP3CA

ZNF503 (Zinc Finger Protein 503): ZNF503 is a zinc finger protein involved in crucial developmental processes, particularly limb and neuronal development. It acts as a transcriptional regulator and plays a role in controlling cell differentiation and growth. Dysregulation of ZNF503 may affect developmental pathways and is linked to potential roles in developmental disorders and cancer.

ZNF503

PACC1 (Peroxisome Acyl-CoA Carrier Protein 1): PACC1 is a protein believed to be involved in lipid metabolism pathways related to peroxisomal functions. Peroxisomes are vital cellular organelles responsible for breaking down very long-chain fatty acids and synthesising plasmalogens, which are key components of cell membranes. Investigating PACC1’s role may provide important insights into metabolic diseases and disorders associated with peroxisomal dysfunction.

PACC1

RAD9A (RAD9 Homolog A): RAD9A is a gene involved in DNA repair and cell cycle checkpoint control. It helps maintain genomic stability by preventing the proliferation of damaged cells. Dysregulation of RAD9A can impair DNA repair mechanisms and contribute to genomic instability.

RAD9A

CHAT (Choline Acetyltransferase): CHAT is the enzyme responsible for producing acetylcholine, a key neurotransmitter in both the peripheral and central nervous systems. Acetylcholine plays an essential role in muscle contraction, heart rate regulation, memory, and learning. Alterations in CHAT activity that disrupt acetylcholine synthesis are linked to neurological disorders such as Alzheimer’s disease and myasthenia gravis.

CHAT

NCAM1 (Neural Cell Adhesion Molecule 1): NCAM1 is a protein that plays a crucial role in neural development, particularly in cell-to-cell adhesion, neurite outgrowth, and synaptic plasticity. It is vital for learning and memory and has been researched in connection with neuropsychiatric disorders such as schizophrenia and autism.

NCAM1

ENOSF1 (Enolase Superfamily Member 1): ENOSF1 is a protein involved in the cellular response to vitamin B2 (riboflavin) availability. It plays a role in the metabolism of cancer cells, particularly in how they adapt to changes in nutrient conditions. Alterations in ENOSF1 expression have been studied in relation to tumour metabolism, suggesting a potential role in cancer progression and the development of targeted therapies that exploit metabolic vulnerabilities in cancer cells.

ENOSF1

POM121 (POM121 Membrane Glycoprotein): POM121 is a component of the nuclear pore complex, responsible for regulating the transport of molecules between the nucleus and cytoplasm. It contributes to the formation of the nuclear envelope and supports cell cycle progression. Disruptions in POM121 function can affect nuclear–cytoplasmic transport and compromise cellular homeostasis.

POM121

TANC1 (Tetratricopeptide Repeat, Ankyrin Repeat, and Coiled-Coil Containing 1): TANC1 is a protein involved in synaptic function and neural development. It plays a role in the formation and maintenance of synapses — the junctions through which neurones communicate. Dysfunctions in TANC1 may affect neural connectivity and have been studied in relation to neurodevelopmental disorders.

TANC1

LDLRAD3 (Low Density Lipoprotein Receptor Class A Domain Containing 3): LDLRAD3 is a gene that encodes a protein believed to be involved in lipid metabolism and transport. It shares similarities with low-density lipoprotein receptors, indicating a role in maintaining cholesterol balance. Its exact function, however, remains not fully understood.

LDLRAD3

NUP93 (Nucleoporin 93): NUP93 is a protein that is part of the nuclear pore complex, which regulates the movement of molecules between the nucleus and the cytoplasm. It is crucial for maintaining the integrity of the nuclear envelope and controlling gene expression. Mutations in NUP93 have been associated with developmental disorders and certain types of cancer.

NUP93

TARS1 (Threonyl-TRNA Synthetase 1): TARS1 is an enzyme involved in the synthesis of threonyl-tRNA, a vital step in protein synthesis. It plays a crucial role in translating genetic information into functional proteins. Mutations in TARS1 have been associated with neurological disorders, emphasising its importance in correct protein production.

TARS1

NWD2 (NACHT and WD Repeat Domain Containing 2): NWD2 (NACHT and WD Repeat Domain Containing 2) is a gene that belongs to a family characterised by NACHT and WD repeat domains. These domains are involved in immune and inflammatory responses. NWD2 is believed to play a role in regulating innate immunity and inflammation. Understanding NWD2 is important for gaining insights into immune system disorders and may have implications for autoimmune diseases and inflammatory conditions.

NWD2

LMNB1 (Lamin B1): LMNB1 is a gene that encodes Lamin B1, a key component of the nuclear lamina — a fibrous layer that supports the inner nuclear membrane. Lamin B1 plays important roles in DNA replication, chromatin organisation, and gene expression regulation. Changes in LMNB1 expression or mutations have been linked to developmental disorders and diseases, including laminopathies and premature ageing syndromes.

LMNB1

HSD17B11 (Hydroxysteroid 17-Beta Dehydrogenase 11): HSD17B11 is an enzyme involved in the metabolism of steroids and fatty acids. It participates in converting androgen and oestrogen precursors and may help regulate sex hormone levels. Additionally, HSD17B11 plays a role in lipid metabolism and could be relevant to metabolic disorders.

HSD17B11

CNIH3 (Cornichon Family AMPA Receptor Auxiliary Protein 3): CNIH3 is a protein that plays a crucial role in regulating the trafficking and function of AMPA receptors in the central nervous system. These receptors are vital for rapid synaptic transmission. By modulating AMPA receptor activity, CNIH3 contributes to synaptic plasticity, learning, and memory. Dysregulation of CNIH3 is linked to neurological disorders such as cognitive impairments and epilepsy.

CNIH3

C1QTNF6 (C1q And TNF Related 6): C1QTNF6 is a member of the C1q/tumour necrosis factor-related protein family, involved in modulating inflammatory responses, adipose tissue metabolism, and cell survival pathways. It plays a role in regulating insulin sensitivity and energy balance. Emerging evidence suggests that C1QTNF6 contributes to metabolic syndromes such as obesity and diabetes, highlighting its potential impact on chronic disease development.

C1QTNF6

STK39 (Serine/Threonine Kinase 39): STK39 is a kinase involved in regulating ion transport and cell volume, particularly in response to osmotic stress. It plays a role in sodium and chloride reabsorption in the kidneys and has been studied for its association with hypertension and kidney function.

STK39

CA8, also known as Carbonic Anhydrase VIII, is an enzyme from the carbonic anhydrase family that catalyses the reversible hydration of carbon dioxide into bicarbonate ions and protons. Found mainly in the cytoplasm and mitochondria of cells, CA8 plays an important role in maintaining pH balance and regulating ion transport. This enzyme is expressed in multiple tissues, including the brain, kidneys, and reproductive organs, indicating its diverse physiological functions beyond typical carbonic anhydrase activity. In the central nervous system, CA8 is especially abundant in Purkinje cells of the cerebellum.

NRIP1 (Nuclear Receptor Interacting Protein 1): NRIP1 is a gene that encodes a protein involved in nuclear receptor signalling. It acts as a coactivator for several nuclear receptors, including oestrogen receptors (ERs) and peroxisome proliferator-activated receptors (PPARs). NRIP1 helps regulate gene expression in response to hormonal signals and is linked to processes such as metabolism and cell growth.

NRIP1

GSTP1 (Glutathione S-Transferase Pi 1): GSTP1 is an enzyme involved in detoxification processes by conjugating reduced glutathione to a variety of both external and internal compounds. Variations in GSTP1 are associated with susceptibility to cancer and other diseases where detoxification plays a key role.

GSTP1

CD96 (CD96 Molecule): CD96 is a member of the immunoglobulin superfamily involved in immune responses. It plays a role in T-cell adhesion and activation and is considered a potential target in cancer immunotherapy due to its function in tumour immunity.

CD96

ZFPM1 (Zinc Finger Protein, FOG Family Member 1): ZFPM1 is a cofactor that interacts with GATA family transcription factors, playing a key role in the development and differentiation of various cell types, particularly those in the heart and blood. It is essential for the differentiation of erythroid and megakaryocyte lineages. Mutations or dysregulation of ZFPM1 can affect haematopoiesis, potentially leading to blood disorders. Additionally, its role in cardiac development connects it to congenital heart defects. Research on ZFPM1 aims to enhance understanding of its function within gene regulation networks that govern cell fate decisions, with potential implications for treatments targeting these conditions.

ZFPM1

IL1B (Interleukin 1 Beta): IL1B is a key cytokine involved in the inflammatory response and a wide range of immune functions. It activates and recruits immune cells to sites of infection or injury and plays a role in inducing fever. Dysregulation of IL1B is linked to chronic inflammatory and autoimmune conditions such as rheumatoid arthritis, gout, and sepsis. As a powerful mediator of inflammation, IL1B is a target for various anti-inflammatory treatments.

IL1B

SULT2A1 (Sulfotransferase Family 2A Member 1): SULT2A1 is a gene that encodes an enzyme from the sulfotransferase family. This enzyme is responsible for sulphating a variety of compounds, including hormones, drugs, and xenobiotics. The sulphation reactions catalysed by SULT2A1 are essential for metabolising and eliminating these substances, playing a key role in the body’s detoxification processes.

SULT2A1

MGA (MAX Gene Associated): MGA is a large transcription factor involved in regulating cell growth and division. It plays a key role within a network of genes that control the cell cycle and has been linked to the development of certain cancers, due to its interactions with oncogenes and tumour suppressor genes.

HLA-DPA1 (Major Histocompatibility Complex, Class II, DP Alpha 1): The HLA-DPA1 gene is part of the human leukocyte antigen (HLA) system, which plays a vital role in immune function. It is involved in presenting peptides from extracellular proteins to T cells, aiding in the regulation of immune responses. Variations in HLA-DPA1 are important for adaptive immunity and are associated with autoimmune diseases, transplant compatibility, and vaccine response.

HLA-DPA1

UBE2V2 (Ubiquitin-Conjugating Enzyme E2 Variant 2): UBE2V2 is a gene involved in the ubiquitin-proteasome system, a key pathway responsible for protein degradation and turnover. It plays a role in attaching ubiquitin molecules to target proteins, marking them for degradation. Through this process, UBE2V2 influences cellular functions, protein stability, and the response to cellular stress.

UBE2V2

GOLGA8B (Golgin A8 Family Member B): GOLGA8B is a gene that encodes a protein belonging to the golgin family, which is involved in the structure and function of the Golgi apparatus. It plays a role in vesicle trafficking and cellular organisation, though its specific functions are not yet fully understood.

GOLGA8B

RNF220 (Ring Finger Protein 220): RNF220 is a gene that encodes a protein belonging to the RING finger family, characterised by a zinc finger domain that provides E3 ubiquitin ligase activity. This protein plays an important role in the ubiquitin-proteasome system, which manages protein degradation and turnover. Through its E3 ligase function, RNF220 helps regulate the stability and activity of specific cellular proteins, supporting processes such as signal transduction, DNA repair, and maintaining cellular homeostasis.

RNF220

FERD3L (Fer3-Like BHLH Transcription Factor): FERD3L is a transcription factor that may play important roles in neuronal development and differentiation. While its precise functions are still under investigation, FERD3L is believed to be involved in key neurodevelopmental processes.

FERD3L

CBS (Cystathionine beta-synthase): CBS is an enzyme essential for sulphur metabolism, playing a key role in converting homocysteine to cysteine. This process supports the production of glutathione, an important antioxidant for protecting cells against oxidative stress. CBS also participates in the transsulphuration pathway, which regulates sulphur-containing amino acids and hydrogen sulphide, a signalling molecule involved in various physiological functions. Proper CBS activity is important for maintaining cellular redox balance, vascular function, and neurotransmitter regulation. Dysregulation of CBS is linked to metabolic disorders such as homocystinuria and cardiovascular diseases.

TSPAN5 (Tetraspanin 5): TSPAN5 is a gene that encodes a protein belonging to the tetraspanin family, which is involved in cell signalling, adhesion, and migration. Tetraspanins help organise various cellular processes and play important roles in immune system function and cancer metastasis. TSPAN5 may also contribute to neural development and synaptic function, although its precise roles and impact on health and disease are still being investigated.

TSPAN5

PEX11A (Peroxisomal Biogenesis Factor 11 Alpha): PEX11A is a protein involved in the formation and regulation of peroxisomes — cell organelles that play key roles in lipid metabolism and detoxification. PEX11A is essential for peroxisome proliferation and proper cellular function.

PEX11A

THAP2 (THAP Domain Containing 2): THAP2 is a member of the THAP domain-containing protein family, characterised by a specific DNA-binding domain. These proteins are involved in cell proliferation, apoptosis, and regulation of gene expression. While the specific functions of THAP2 are not fully understood, it may play a role in transcriptional regulation.

THAP2

LCK (Lymphocyte-Specific Protein Tyrosine Kinase): LCK is an enzyme that plays a crucial role in the T-cell receptor (TCR) signalling pathway. It phosphorylates essential proteins to initiate T-cell development and activation, which are vital for the adaptive immune response. Dysregulation of LCK can impact immune function and is associated with autoimmune diseases and immunodeficiency. Due to its central role, LCK is a target for immunotherapy in cancer and autoimmune disorders.

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

IL2RA

DPEP1 (Dipeptidase 1): DPEP1 is involved in the hydrolysis of dipeptides and plays a role in detoxification processes, particularly in the kidneys. It participates in the metabolism of glutathione and leukotrienes, which are important for cellular redox balance and inflammation. Variations in DPEP1 activity can affect drug metabolism and the body's response to inflammatory stimuli. Research on DPEP1 focuses on its effects on kidney function, blood pressure, and inflammatory diseases.

DPEP1

PLCG2 (Phospholipase C Gamma 2): PLCG2 is a gene that plays a crucial role in intracellular signalling pathways, particularly in immune cells. It is involved in the hydrolysis of phosphatidylinositol 4,5-bisphosphate, a key step in activating the protein kinase C pathway. Mutations in PLCG2 have been associated with immune-related disorders and are researched in connection with autoinflammatory diseases.

PLCG2

C1ORF87 (Chromosome 1 Open Reading Frame 87): C1ORF87 is a gene that remains poorly characterised, with its role in human biology not yet fully established. Genes described as "open reading frames" (ORFs) are frequently subjects of ongoing research aimed at uncovering their functions in cellular processes and their potential effects on health and disease.

C1ORF87

ST6GAL1 (ST6 Beta-Galactoside Alpha-2,6-Sialyltransferase 1): ST6GAL1 is a gene that encodes an enzyme involved in the addition of sialic acid to glycoproteins. This function is important for cellular recognition and signalling processes. Alterations in ST6GAL1 activity have been linked to diseases such as cancer and autoimmune disorders.

ST6GAL1

COMT (Catechol-O-Methyltransferase): COMT is an enzyme that plays a crucial role in the metabolism of catecholamines, including dopamine, adrenaline, and noradrenaline. It is essential for regulating neurotransmitter levels in the brain and is associated with psychiatric disorders such as schizophrenia. COMT also contributes to the body's pain response and has been studied in connection with pain sensitivity and various mental health conditions.

COMT

TSKU (Tafazzin Knockdown Factor Upstream): TSKU is a gene associated with tafazzin, an enzyme involved in the biosynthesis of cardiolipin, a phospholipid found in the inner mitochondrial membrane. Tafazzin plays a pivotal role in mitochondrial function and energy production. The role of TSKU in regulating tafazzin indicates its significance in preserving mitochondrial membrane integrity.

TSKU

GLO1 (Glyoxalase I): GLO1 is a gene that encodes an enzyme responsible for detoxifying methylglyoxal, a harmful by-product of metabolism. GLO1 helps protect cells against oxidative stress and is involved in conditions such as diabetes and other diseases where glyoxalase activity is important.

GLO1

ZBTB26 (Zinc Finger And BTB Domain Containing 26): ZBTB26 is a gene that encodes a transcription factor featuring zinc finger and BTB (Broad-Complex, Tramtrack, Bric-a-Brac) domains. This protein is involved in regulating gene expression and may play important roles in development and immune system function. Further research is needed to fully clarify its functions and significance.

ZBTB26

FAM227B (Family with Sequence Similarity 227 Member B): FAM227B is a gene about which there is currently limited information regarding its function. Further research is required to elucidate its specific role and significance in cellular processes and human health.

FAM227B

PITX1 (Paired Like Homeodomain 1): PITX1 is a transcription factor essential for the development of hindlimb structures and the pituitary gland. Mutations in PITX1 can cause developmental disorders such as Liebenberg syndrome, which is characterised by malformations of the upper limbs.

PITX1

CSDC2 (Cold Shock Domain Containing C2): CSDC2 is a protein involved in RNA binding and the regulation of gene expression. It is thought to play a role in cellular responses to environmental stresses, particularly temperature fluctuations. Although its exact functions in human health and disease are still being studied, ongoing research seeks to clarify its roles.

CSDC2

PRXL2A (Peroxiredoxin-like 2A): PRXL2A is a gene that encodes a protein involved in reducing peroxide levels within cells, helping to protect them from oxidative stress. This enzyme plays a role in cell survival, proliferation, and the response to stress. Research on PRXL2A continues to explore its contributions to ageing, cancer, and diseases linked to oxidative damage.

PRXL2A

RNF43 (Ring Finger Protein 43): RNF43 is a gene that encodes an E3 ubiquitin ligase involved in the negative regulation of the Wnt signalling pathway. This protein plays a crucial role in controlling cell proliferation and differentiation. Mutations in RNF43 are associated with several cancers, particularly colorectal and endometrial cancers.

RNF43

CHL1 (Cell Adhesion Molecule L1-Like): CHL1 is a cell adhesion molecule involved in the development and function of the nervous system. It plays a key role in neuron migration and synaptic plasticity. Alterations in CHL1 have been linked to neurodevelopmental disorders, including autism and intellectual disabilities.

CHL1

RNF128 (Ring Finger Protein 128): RNF128 is a gene that encodes an E3 ubiquitin-protein ligase involved in the ubiquitin-proteasome system, a crucial pathway for protein degradation. It plays a role in immune regulation and has been associated with autoimmune diseases. Research on RNF128 contributes to a better understanding of immune responses and autoimmunity.

RNF128

ABTB1 (Ankyrin Repeat and BTB Domain Containing 1): ABTB1 is a protein containing ankyrin repeats and a BTB (POZ) domain, suggesting a role in protein-protein interactions. It is involved in regulating transcription and may contribute to the development of certain cancers. Although its full range of functions is still being researched, ABTB1 is associated with key cellular processes.

ABTB1

LPL (Lipoprotein Lipase): LPL is a gene that encodes an enzyme essential for the metabolism of triglyceride-rich lipoproteins. It hydrolyses triglycerides in lipoproteins such as chylomicrons and VLDL, enabling the release of free fatty acids for energy use or storage. Mutations in LPL can lead to hyperlipidaemia and increase the risk of pancreatitis and cardiovascular disease.

COLEC12 (Collectin sub-family member 12): COLEC12 is a protein belonging to the collectin family that plays a key role in innate immunity and host defence. It contributes to the recognition and clearance of microbial pathogens by binding to specific carbohydrate patterns on their surfaces. COLEC12 is especially important in activating the lectin pathway of the complement system, promoting immune response and pathogen elimination. Additionally, COLEC12 is involved in regulating inflammatory responses and tissue remodelling.

COLEC12

SYT10 (Synaptotagmin X): SYT10 is a member of the synaptotagmin family involved in regulating neurotransmitter release and intracellular signalling. It functions as a calcium sensor that modulates calcium-dependent exocytosis, particularly in non-neuronal tissues. SYT10 plays a key role in the release of neuropeptides and hormones in response to intracellular calcium levels. Its functions in neurotransmission and synaptic plasticity suggest potential relevance to neurological conditions and cognitive processes. Dysregulation of SYT10 has been linked to various disorders.

SYT10

KIF26B (Kinesin Family Member 26B): KIF26B is a gene that encodes a motor protein involved in transporting cellular cargo along microtubules. It plays a role in developmental processes such as kidney and limb formation by regulating morphogenetic movements and signalling pathways. Mutations or dysregulation of KIF26B may contribute to developmental abnormalities and congenital disorders.

KIF26B

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

CASS4

OR10J1 (Olfactory Receptor 10J1): OR10J1 is a gene that encodes a receptor belonging to the olfactory receptor family, which is vital for the sense of smell. These receptors detect specific odour molecules, contributing to the broad range of scent perceptions. Research on OR10J1 helps to enhance understanding of olfaction and may provide insights for the development of sensory technologies and fragrance design.

OR10J1

RASSF3 (Ras Association Domain Family Member 3): RASSF3 is a gene that encodes a tumour suppressor protein involved in regulating the cell cycle, apoptosis, and cellular senescence. It acts as a mediator in signalling pathways related to Ras proteins, which are essential for cell growth, differentiation, and survival. RASSF3 also interacts with microtubules and other cellular structures, helping maintain genomic stability and control mitosis. Through these functions, it plays a role in suppressing tumour growth by inhibiting abnormal cell proliferation.

RASSF3

CKM (Creatine Kinase, Muscle): CKM is an enzyme specific to muscle tissue that plays a key role in energy metabolism. It catalyses the reversible transfer of phosphate between ATP and creatine to ensure a steady supply of ATP during muscle contraction. Elevated CKM levels in the blood indicate muscle damage and serve as a biomarker for conditions such as myocardial infarction, muscular dystrophy, and other muscle injuries.

STK17A (Serine/Threonine Kinase 17A): STK17A is a gene that encodes a protein kinase involved in regulating cell death (apoptosis) and cell survival. It plays a role in cellular responses to stress and DNA damage. Dysregulation of STK17A may affect cell survival and contribute to disease development, including cancer.

STK17A

PPIL1 (Peptidylprolyl Isomerase Like 1): PPIL1 is a member of the cyclophilin family of enzymes that catalyse the cis-trans isomerisation of proline bonds in proteins, aiding in protein folding and assembly. This activity supports key cellular processes such as signal transduction, transcription regulation, and cell cycle control. PPIL1 contributes to maintaining cellular balance and stress response by participating in protein complexes and helping splice pre-mRNA for accurate gene expression.

PPIL1

ME1 (Malic Enzyme 1): ME1 is a gene that encodes an enzyme involved in metabolic processes, specifically the conversion of malate to pyruvate in the citric acid cycle. It plays a crucial role in energy metabolism and the production of NADPH, which supports cellular functions such as lipid synthesis.

SOX6

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