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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

RBM17 (RNA Binding Motif Protein 17): RBM17 is a protein involved in RNA splicing, a crucial process in gene expression. It plays a significant role in regulating alternative splicing, which determines the diversity of proteins produced from a single gene. Changes in RBM17 may have implications in diseases like cancer, where disrupted splicing can affect cell growth and survival.

RBM17

rs2129588: Similarly, rs2129588 is a single nucleotide polymorphism (SNP), a common type of genetic variation among individuals. Each SNP represents a change in a single DNA building block, or nucleotide, such as replacing cytosine (C) with thymine (T). Like other SNPs, rs2129588 can function as a biological marker, aiding researchers in identifying genes linked to diseases and facilitating studies in genomics, pharmacogenomics, and population genetics.

rs2129588

AKR1E2 (Aldo-Keto Reductase Family 1 Member E2): AKR1E2 is part of the aldo-keto reductase (AKR) family, a group of enzymes involved in the detoxification of aldehydes and ketones. While the specific function of AKR1E2 is not fully understood, members of this family play important roles in metabolism and the cellular response to oxidative stress. Studying AKR1E2 may provide insights into metabolic disorders and how cells respond to environmental stressors.

AKR1E2

TBX3 (T-Box Transcription Factor 3): TBX3 is a transcription factor that plays a vital role in embryonic development, regulating organ formation including limbs, heart, and mammary glands. Mutations or dysregulation of TBX3 can lead to developmental disorders such as ulnar-mammary syndrome. It is also linked to cancer, where it may function as a transcriptional repressor to inhibit cell ageing and promote cell proliferation.

TBX3

SOAT2 (Sterol O-Acyltransferase 2): SOAT2 is an enzyme that represents a key step in lipid metabolism, particularly in the esterification of cholesterol. It plays a vital role in regulating cellular cholesterol levels by converting free cholesterol into cholesterol esters, which are either stored in lipid droplets or transported through lipoproteins. SOAT2 is predominantly expressed in tissues involved in lipid metabolism, including the liver, intestine, and macrophages. Its activity is tightly regulated and responsive to cholesterol levels, helping to prevent cholesterol toxicity and maintain lipid balance.

SOAT2

TNFSF10 (Tumor Necrosis Factor Superfamily Member 10): TNFSF10, also known as TRAIL, is a gene that encodes a protein involved in inducing apoptosis, especially in tumor cells. It plays a role in immune surveillance and holds potential for cancer therapy by selectively triggering cell death in cancer cells while sparing normal cells. TNFSF10 is actively researched for its therapeutic applications in oncology.

TNFSF10

POCD5 (Postoperative Cognitive Dysfunction 5): POCD5 is a gene linked to postoperative cognitive dysfunction, a condition characterized by cognitive decline after surgery. Ongoing research aims to understand the specific mechanisms and factors contributing to this condition.

POCD5

SCFD1 (Sec1 Family Domain Containing 1): SCFD1 is a gene that encodes a protein involved in vesicle trafficking, especially in the transport of secretory proteins. It plays a role in regulating vesicle docking and fusion, which is crucial for proper cellular function and communication between cells.

SCFD1

PTER (Phosphotriesterase-related protein): PTER is a protein that plays a crucial role in cellular detoxification and metabolism regulation. As a member of the phosphotriesterase-related protein family, PTER participates in breaking down chemical compounds, including organophosphate pesticides and nerve agents. Its enzymatic activity helps protect cells from chemical damage, and it is also involved in cellular signalling and metabolic processes. Dysregulation of PTER expression or activity can increase vulnerability to chemical toxicity and metabolic disturbances.

PTER

OOSP1 (Oocyte Secreted Protein 1): OOSP1 is a gene that encodes a protein mainly expressed in oocytes and involved in early embryonic development. It may have a role in oocyte maturation and in regulating processes during fertilisation and the initial stages of embryogenesis. Its function is vital for reproductive health and successful embryonic development.

OOSP1

NTSR2 (Neurotensin Receptor 2): NTSR2 is a G protein-coupled receptor that binds neurotensin, a neurotransmitter involved in central nervous system functions such as pain relief, temperature regulation, and modulation of dopamine signaling. Activation of NTSR2 affects neural activity and has been associated with the pathophysiology of psychiatric disorders, making it a potential target for treatments in schizophrenia, mood disorders, and pain management.

NTSR2

TNFSF12 (Tumor Necrosis Factor Ligand Superfamily Member 12, TWEAK): TNFSF12 is a cytokine that belongs to the TNF superfamily and plays a role in regulating immune responses, inflammation, tissue homeostasis, and cell death. It functions as both a pro-inflammatory and anti-inflammatory signal, influencing the production of cytokines and chemokines, recruiting immune cells, and modulating the activity of endothelial and other target cells.

TNFSF12

TNFRSF13B (Tumor Necrosis Factor Receptor Superfamily Member 13B): TNFRSF13B, also known as TACI, is a receptor for the cytokines BAFF and APRIL. Both play key roles in B cell development and function. Mutations in TNFRSF13B have been linked to common variable immunodeficiency (CVID) and selective IgA deficiency, highlighting its importance in humoral immunity. Research on TNFRSF13B focuses on understanding its role in immune dysregulation and autoimmune diseases.

TNFRSF13B

LRATD1 (Lecithin Retinol Acyltransferase Domain Containing 1): LRATD1 is a gene that encodes a protein featuring a domain similar to lecithin retinol acyltransferase (LRAT), an enzyme involved in vitamin A metabolism. Although its precise functions are still being studied, LRATD1 is believed to play a role in processes related to the utilisation and regulation of vitamin A.

LRATD1

IL6 (Interleukin 6): IL6 is a cytokine that indicates the activity of the immune system and inflammation. It plays a crucial role in coordinating the body’s defence mechanisms during infections and injuries. IL6 helps regulate inflammatory responses and directs immune cells to tackle threats. Researchers examine IL6 to understand its complex interactions and its influence on both normal immune function and inflammatory conditions.

RPL39 (Mitochondrial Ribosomal Protein L39): MRPL39 is a gene that encodes a protein component of the mitochondrial ribosome, essential for mitochondrial protein synthesis. This process supports the production of mitochondrial respiratory chain components, which are critical for cellular energy generation. MRPL39 plays a key role in mitochondrial function, and its dysfunction may contribute to disorders affecting energy metabolism, including neurodegenerative, muscular, and metabolic diseases.

MRPL39

TNF (Tumor Necrosis Factor): TNF is a cytokine that indicates the activity of the immune system in response to infection and tissue injury. It plays a vital role in regulating inflammation and immune responses, and its imbalance is linked to autoimmune disorders and chronic inflammatory diseases.

PREP (Prolyl Endopeptidase): PREP is an enzyme that indicates the activity of a serine protease involved in breaking down proline-containing peptides. It plays a crucial role in the metabolism of neuropeptides and peptide hormones, contributing to cognitive functions and the inflammatory response. Variations in PREP activity have been linked to neurological disorders, including Alzheimer's disease, underscoring its significance in neurodegeneration and cognitive health.

PREP

LY6K (Lymphocyte Antigen 6 Complex, Locus K): LY6K is a gene that encodes a protein belonging to the LY6/uPAR (lymphocyte antigen 6/urokinase-type plasminogen activator receptor) family. While its exact function is still being studied, LY6K may have a role in immune responses and cell signalling.

LY6K

STARD5 (StAR-Related Lipid Transfer Domain Containing 5): STARD5 is a protein that indicates the activity of the START domain family, which is involved in the transport and distribution of lipids within cells. It plays a crucial role in regulating lipid metabolism and maintaining lipid balance, especially in the liver and gastrointestinal tract. Although its specific functions are still under research, STARD5’s role in lipid transport suggests possible implications for metabolic disorders and diseases related to lipid imbalance.

STARD5

ADRA1A (Adrenoceptor Alpha 1A): ADRA1A is a gene that encodes a subtype of alpha-1-adrenergic receptors, which are involved in the body’s responses to adrenaline and noradrenaline. These receptors play a key role in smooth muscle contraction and cardiovascular function, including blood pressure regulation and vascular tone. Changes in ADRA1A activity may influence cardiovascular health and autonomic nervous system function.

ADRA1A

TNR (Tenascin R): TNR is a gene that encodes an extracellular matrix protein mainly found in the central nervous system. It is involved in neural development, including synaptic plasticity and neuronal differentiation. TNR contributes to the formation of neural networks and may affect neurodevelopmental and neurodegenerative processes.

ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the first step of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can influence the rate of alcohol metabolism, affecting alcohol tolerance and the risk of alcohol-related diseases.

ADH1B

SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is a member of the SCAMP family, involved in membrane trafficking processes. It plays a key role in regulating membrane recycling and exocytosis, especially in neurons. SCAMP5 is important for neurotransmitter release and neuronal communication, and its function may have implications in neurological disorders.

SCAMP5

OVOL1 (Ovo Like Transcriptional Repressor 1): OVOL1 is a gene that encodes a transcriptional repressor involved in regulating gene expression during development and tissue differentiation. It plays a role in epithelial cell differentiation and the formation of tissue barriers.

OVOL1

MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a vital role in regenerating methylcobalamin, supporting the ongoing function of MTR in homocysteine metabolism. It is crucial for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are associated with homocystinuria, which can lead to developmental and neurological complications. Understanding MTRR function offers insights into potential therapies for genetic disorders.

MTRR

LBP (Lipopolysaccharide-Binding Protein): LBP is a protein that plays a vital role in the immune response against bacterial infections. It binds to bacterial lipopolysaccharides (LPS) and aids in activating the innate immune system. LBP is a crucial part of the body's defence against bacterial pathogens.

SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma): SCNN1G is a gene that encodes the gamma subunit of the epithelial sodium channel (ENaC), which regulates sodium balance and fluid homeostasis in epithelial tissues such as the lung, kidney, and colon. This subunit is crucial for controlling the channel’s activity and its response to regulatory signals, including hormones like aldosterone. Mutations or dysregulation of SCNN1G can impact fluid and electrolyte balance and contribute to related disorders.

SCNN1G

RAB38 is a member of the Ras-related protein family and functions as a key regulator of intracellular membrane trafficking, especially within the endosomal-lysosomal system. Mainly found in the cytoplasm, RAB38 coordinates the movement and fusion of membrane-bound vesicles, ensuring correct sorting and delivery of cargo molecules. This protein has a specialized role in melanosome biogenesis, supporting the maturation and transport of melanosomes—organelles responsible for melanin synthesis and distribution in melanocytes. Through its interactions with effector proteins and membrane fusion machinery, RAB38 facilitates these essential cellular processes.

RAB38

TSHR (Thyroid-Stimulating Hormone Receptor): TSHR is a parameter that indicates the activity of the thyroid-stimulating hormone receptor, which is encoded by the TSHR gene. This receptor, found on the surface of thyroid cells, is crucial in controlling the production and release of thyroid hormones in response to signals from the pituitary gland. Malfunction of TSHR can lead to thyroid-related disorders.

TSHR

RSPO3 (R-Spondin 3): RSPO3 is a member of the R-spondin family that modulates the Wnt signaling pathway, which is essential for embryonic development and cell growth. It plays key roles in processes such as vascular development and stem cell proliferation. Dysregulation of RSPO3 has been linked to conditions including cancer.

RSPO3

SDK1 (Sidekick Cell Adhesion Molecule 1): SDK1 is a protein that plays a crucial role in cell adhesion and the organization of synapses. It is vital for the development of neural circuits, particularly in the visual system, and supports effective neural connectivity and communication.

SDK1

Ric3 (Resistance To Inhibitors Of Cholinesterase 3 Homolog): Ric3 is a protein that plays a role in the maturation and transport of nicotinic acetylcholine receptors, which are crucial for neuronal signaling. Ric3 is important for the development and upkeep of the nervous system, and changes in its function can impact neurological disorders.

Ric3

APP (Amyloid Precursor Protein): APP is a measure that reflects the role of a key transmembrane protein involved in various cellular processes, particularly within the central nervous system. APP is crucial for neuronal development, synaptic plasticity, and cell signalling. Its processing generates amyloid-beta peptides, which are associated with the onset of Alzheimer's disease. Proper regulation of APP processing and amyloid-beta production is vital for maintaining neuronal health and cognitive function, whereas dysregulation may contribute to Alzheimer's pathology.

PPP1R17 (Protein Phosphatase 1 Regulatory Subunit 17): PPP1R17 is a protein that functions as a regulatory subunit of protein phosphatase 1 (PP1). PP1 plays a key role in dephosphorylating target proteins and is essential for cell signalling, metabolism, and cell cycle regulation. PPP1R17 helps modulate the activity and specificity of PP1, influencing a range of cellular processes.

PPP1R17

MICB (MHC Class I Polypeptide-Related Sequence B): MICB is a stress-induced ligand for the NKG2D receptor, which is expressed on natural killer (NK) cells, CD8+ T-cells, and certain γδ T-cells. The interaction between MICB and NKG2D is essential for immune surveillance, helping the body recognise and eliminate malignant or infected cells. Upregulation of MICB on stressed, transformed, or infected cells can activate an immune response, leading to targeted cell destruction. Therefore, MICB plays a key role in defence against cancer and viral infections.

MICB

QSOX2, also known as Quiescin Sulfhydryl Oxidase 2, is an enzyme that plays a vital role in the oxidative folding of proteins, particularly those containing multiple disulfide bonds. Predominantly found in the endoplasmic reticulum (ER) of cells, QSOX2 is crucial for preserving protein structure and function by catalysing the formation of disulphide bonds between cysteine residues. This enzymatic activity supports correct protein folding, stability, and secretion, functioning as a thiol oxidase that transfers electrons from reduced cysteines to molecular oxygen.

QSOX2

FMN2 (Formin 2): FMN2 is a protein involved in cytoskeletal regulation, particularly in the formation of actin filaments. It plays a key role in cell division, movement, and morphogenesis, supporting the structural integrity and dynamic remodeling of the cytoskeleton. FMN2 is essential during cell division and nervous system development, and mutations in the FMN2 gene have been linked to impaired sperm motility, infertility, and certain developmental disorders.

FMN2

RGMA (Repulsive Guidance Molecule A): RGMA is a protein that regulates axon guidance during neural development. It plays a key role in directing neuronal migration and axon growth through repulsive signalling pathways. RGMA is essential for the formation of neural circuits and is linked to certain neurodevelopmental disorders.

RGMA

PSCA (Prostate Stem Cell Antigen): PSCA is a cell surface protein present in certain tissues, including the prostate. It has been researched for its potential role in prostate cancer, where it may serve as a biomarker and a possible target for therapy.

PSCA

ADARB2 (Adenosine Deaminase RNA-Specific B2): ADARB2 is an enzyme belonging to the adenosine deaminase family that participates in RNA editing. It catalyses the conversion of adenosine to inosine in RNA molecules, a post-transcriptional modification that can change RNA sequences, influencing their structure, function, and regulation of gene expression.

ADARB2

TGM2 (Transglutaminase 2): TGM2 is a multifunctional enzyme that catalyzes the cross-linking of glutamine and lysine residues in proteins, a key post-translational modification. It is involved in crucial cellular processes such as apoptosis, cell differentiation, and tissue repair by stabilising and remodelling the extracellular matrix. TGM2 is linked to various disease pathways, including neurodegenerative disorders, fibrotic diseases, and certain cancers, where altered activity can drive disease progression. It also plays a role in immune responses, notably in coeliac disease.

TGM2

C8ORF37 (Chromosome 8 Open Reading Frame 37): C8ORF37 is a gene associated with retinal dystrophies and Bardet-Biedl syndrome — a disorder characterised by vision loss, obesity, and other symptoms. It plays a crucial role in maintaining photoreceptor cells and supporting cilia-related functions. Mutations in this gene can lead to retinal degeneration and impair normal ciliary function.

C8ORF37

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a part of the NADPH oxidase complex that plays a crucial role in the immune defence system. It helps regulate the formation and activation of this complex, allowing the production of reactive oxygen species (ROS) during the oxidative burst in phagocytes. This process is vital for destroying engulfed pathogens, and mutations in NCF4 can weaken immunity, leading to increased vulnerability to infections.

NCF4

NOS1 (Nitric Oxide Synthase 1): NOS1 is an enzyme that produces nitric oxide (NO), a key signaling molecule in the body. It is essential for neurotransmission, regulation of vascular tone, and modulation of immune responses. In the nervous system, NOS1 supports neuronal communication and plasticity. Imbalances in NOS1 activity have been linked to neurological disorders, cardiovascular diseases, and inflammatory conditions.

NOS1

OR13F1 (Olfactory Receptor, Family 13, Subfamily F, Member 1): OR13F1 is a protein belonging to the olfactory receptor gene family — a group of G protein-coupled receptors responsible for detecting odors. These receptors are located in the olfactory epithelium, where they bind to specific odor molecules and initiate signalling pathways that lead to the perception of smell. Although the exact ligands and functions of OR13F1 are not fully defined yet, it contributes to our sense of smell and may also be involved in detecting pheromones.

OR13F1

RARB (Retinoic Acid Receptor Beta): RARB is a nuclear receptor that binds retinoic acid, a metabolite of vitamin A. It plays a key role in regulating gene expression during development, particularly in the growth of epithelial tissue, cell differentiation, and formation of the nervous system. Altered RARB activity has been linked to cancers such as skin, lung, and breast cancers, as well as developmental disorders, and is being studied for potential retinoid-based therapies.

RARB

SERINC2 (Serine Incorporator 2): SERINC2 is a protein belonging to the SERINC family that assists in incorporating serine into membrane lipids, supporting the biosynthesis and stability of cellular membranes. It plays crucial roles in maintaining membrane fluidity, regulating signaling pathways, and contributing to immune function. By influencing membrane composition, SERINC2 impacts cell proliferation, differentiation, and programmed cell death, making it vital for cellular health and physiological balance.

SERINC2

OPTC (Opticin): Opticin is a glycoprotein found mainly in the vitreous humor of the eye. It plays a crucial role in preserving the structural integrity of the vitreous body and may also be involved in eye development as well as certain ocular diseases.

OPTC

PSAP (Prosaposin): PSAP is a precursor protein that is processed into saposins, which are essential for the breakdown of lipids within lysosomes. These saposins play a key role in preventing the accumulation of complex lipids in cells. Deficiencies or mutations in PSAP can lead to lysosomal storage disorders, including Gaucher disease, Fabry disease, and metachromatic leukodystrophy.

PSAP

TMEM258 (Transmembrane Protein 258): TMEM258 is a part of the oligosaccharyltransferase complex, which plays a crucial role in N-linked glycosylation — essential for proper protein folding and stability. It is involved in maintaining endoplasmic reticulum function and may be associated with various physiological processes and diseases related to protein misfolding.

TMEM258

TMEM51 (Transmembrane Protein 51): TMEM51 is a protein involved in membrane organization and intracellular trafficking. Although its exact functions are not fully understood, it is believed to play a role in intracellular transport and cell signaling pathways.

TMEM51

ANKK1 (Ankyrin Repeat and Kinase Domain Containing 1): ANKK1 is a gene linked to signal transduction and may have a role in regulating dopamine receptors, which are crucial for brain function. Variants near ANKK1 have been associated with neuropsychiatric disorders and addiction, possibly due to their effect on dopamine signaling.

ANKK1

RALGDS (Ral Guanine Nucleotide Dissociation Stimulator): RALGDS is a guanine nucleotide exchange factor that regulates the activation of Ral GTPases. It plays a key role in signal transduction pathways, influencing cell growth, differentiation, and survival. Changes in RALGDS activity have been associated with cancer development and progression.

RALGDS

RADX (RADX DNA Repair Helicase): RADX is a protein that plays a crucial role in DNA repair, especially in maintaining genomic stability during DNA replication. It is involved in the cellular response to DNA damage and helps prevent genomic instability — a key factor in cancer development. RADX is a significant focus in understanding DNA repair mechanisms and advancing cancer research.

RADX

RFC4 (Replication Factor C Subunit 4): RFC4 is a component of the replication factor C complex, essential for DNA replication and cell cycle regulation. It assists in loading DNA polymerases onto DNA during replication and repair processes. Abnormal regulation of RFC4 can cause genomic instability and is being studied in connection with cancer.

RFC4

TMPRSS6 (Transmembrane Serine Protease 6): TMPRSS6 is a protein that plays a crucial role in regulating iron metabolism, primarily by controlling hepcidin — the hormone responsible for iron absorption. Mutations in TMPRSS6 can lead to iron-refractory iron deficiency anemia (IRIDA), a type of anemia that does not respond to oral iron supplementation.

TMPRSS6

NUP62CL (Nucleoporin 62 C-Terminal Like): NUP62CL is a gene that encodes a component of the nuclear pore complex — a crucial structure in the nuclear envelope that regulates the movement of molecules between the nucleus and cytoplasm. Alterations in NUP62CL can interfere with nuclear transport and may be associated with neurodegenerative diseases and certain types of cancer.

NUP62CL

MOV10L1 (Moloney leukemia virus 10-like protein 1): MOV10L1 is an RNA helicase that plays a crucial role in RNA metabolism and post-transcriptional regulation. It is involved in processes such as RNA interference, RNA degradation, and mRNA translation by unwinding RNA duplexes and assisting in the removal of target RNAs. MOV10L1 helps regulate gene expression, restrict retroviruses and retrotransposons, and maintain genome stability, with its dysregulation associated with various biological functions and disease conditions.

MOV10L1

NCR3 (Natural Cytotoxicity Triggering Receptor 3): NCR3 is a gene that encodes a receptor present on natural killer (NK) cells and certain T cells. It plays a crucial role in identifying and targeting infected or abnormal cells for elimination, serving as a key component of the innate immune response against viruses and tumour cells.

NCR3

MSRB2 (Methionine Sulfoxide Reductase B2): MSRB2 is an enzyme that helps repair oxidised methionine residues in proteins, safeguarding cells from oxidative stress and preserving protein function. It is a key component of the body’s antioxidant defence system, supporting cellular resilience against environmental challenges. Studies on MSRB2 explore its potential links to ageing, neurodegenerative disorders, and other conditions associated with oxidative damage.

MSRB2

NR3C1 (Nuclear Receptor Subfamily 3 Group C Member 1): NR3C1 is a gene that encodes the glucocorticoid receptor, which mediates the actions of glucocorticoids — a class of steroid hormones. This receptor is essential for regulating stress responses, immune activity, and metabolism. Dysregulation of NR3C1 has been linked to stress-related disorders, inflammatory conditions, and metabolic diseases, making it a key player in the body’s adaptation to stress and inflammation.

NR3C1

REX1BD (REX1 Basic Domain): REX1BD is a gene region characterised by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.

REX1BD

NCLN (Nicalin): NCLN is a protein that forms part of a complex regulating intracellular signalling pathways essential for development. It plays a critical role in modulating Notch signalling — a pathway controlling cell differentiation, proliferation, and apoptosis. Disruption of NCLN or related pathways can contribute to developmental disorders and various diseases, including cancer, highlighting its importance in cellular communication and overall developmental processes.

NCLN

HFE (Homeostatic Iron Regulator): HFE is a gene that plays a crucial role in regulating iron absorption and maintaining iron balance in the body. Mutations in HFE can cause hereditary hemochromatosis, a condition characterized by excessive iron accumulation, which may lead to organ damage.

KCTD15 (Potassium Channel Tetramerization Domain Containing 15): KCTD15 is a gene involved in neural development and the regulation of potassium channels. It plays a role in assembling potassium channel complexes, which are important for neuronal excitability. Dysregulation of KCTD15 may affect neural function.

KCTD15

NUDT9 (Nudix Hydrolase 9): NUDT9 is a gene that encodes a member of the Nudix hydrolase family. Proteins in this family are involved in the hydrolysis of nucleoside diphosphate derivatives. While the specific substrates and functions of NUDT9 are still being studied, it plays a role in nucleotide metabolism and cellular homeostasis.

NUDT9

MORC4 (MORC Family CW-Type Zinc Finger 4): MORC4 is a gene involved in chromatin remodeling and gene expression regulation. It plays vital roles in cellular processes such as DNA repair and apoptosis. Mutations or malfunctions in MORC4 may be linked to various cancers and developmental disorders, making it a significant focus in research on gene regulation and cancer biology.

MORC4

KANSL1, also known as KAT8 Regulatory NSL Complex Subunit 1, is a protein that plays a key role in chromatin regulation and gene expression. It is a component of the Non-Specific Lethal (NSL) histone acetyltransferase (HAT) complex, which acetylates histone proteins, particularly histone H4 at lysine 16 (H4K16ac), a modification linked to transcriptional activation and chromatin remodelling. KANSL1 contributes to the regulation of gene expression by modifying chromatin structure, with the NSL complex targeting specific genomic regions to promote an open chromatin state and facilitate transcription.

KANSL1

LMF2 (Lipase Maturation Factor 2): LMF2 is a gene that encodes a protein essential for the maturation and proper functioning of lipases, enzymes critical for lipid metabolism. It is involved in the processing and activation of lipases within the endoplasmic reticulum. Defects in LMF2 may contribute to dyslipidemia and other metabolic disorders related to lipid metabolism.

LMF2

FANCA (Fanconi anemia group A protein): FANCA is a gene that encodes a protein essential for the Fanconi anemia (FA) DNA repair pathway, which helps maintain genomic stability. FANCA plays a role in activating the FA core complex to identify and repair DNA interstrand crosslinks (ICLs), harmful lesions that can impede DNA replication and transcription. By coordinating the assembly and recruitment of the FA core complex to damaged DNA, FANCA facilitates proper DNA repair and prevents genome instability.

FANCA

BMP6 (Bone Morphogenetic Protein 6): BMP6 is a member of the bone morphogenetic protein (BMP) family, which plays a crucial role in the development and repair of bone and cartilage. It is involved in vital cellular processes such as cell growth, apoptosis, and differentiation. BMP6 has been studied for its role in osteogenesis and is also linked to cancer progression.

BMP6

PSD3 (Pleckstrin And Sec7 Domain Containing 3) is a gene that encodes a protein involved in intracellular trafficking and signaling. It contains a Sec7 domain, which is associated with guanine nucleotide exchange factors that activate ARF GTPases, key players in vesicle formation and trafficking. Dysfunction in PSD3 may impact cellular communication and transport processes.

PSD3

RUNX3 (Runt-Related Transcription Factor 3): RUNX3 is a gene that encodes a transcription factor involved in regulating gene expression. It contributes to key cellular processes, including cell differentiation and immune responses. Dysregulation of RUNX3 has been linked to cancer and developmental disorders.

RUNX3

TSLP (Thymic Stromal Lymphopoietin): TSLP is a cytokine that plays a crucial role in initiating allergic inflammation and regulating immune responses at the epithelial barrier. It acts on dendritic cells, promoting a Th2-skewed immune response, which is central to the development of allergic conditions such as asthma, atopic dermatitis, and eosinophilic esophagitis. Research on TSLP emphasises its potential as a therapeutic target, with insights into its mechanisms providing opportunities for innovative treatments of these diseases.

TSLP

PIK3AP1 (Phosphoinositide-3-Kinase Adaptor Protein 1): PIK3AP1 is a protein that plays a crucial role in the PI3K signalling pathway. This pathway is vital for various cellular functions such as cell growth, proliferation, and survival. PIK3AP1’s role in immune cell signalling makes it significant in research related to immunity, inflammation, and cancer biology.

PIK3AP1

RGS18 (Regulator of G Protein Signaling 18): RGS18 is a protein involved in the regulation of G protein-coupled receptor signaling, especially in hematopoietic cells. It plays crucial roles in platelet function and immune responses, and its dysregulation can impact blood clotting and contribute to disorders of the immune system.

RGS18

RAB11FIP2 (RAB11 Family Interacting Protein 2): RAB11FIP2 is a protein involved in intracellular trafficking, specifically in recycling proteins and membranes from the endocytic recycling compartment. It plays a vital role in maintaining cellular homeostasis and ensuring proper membrane traffic, influencing processes such as signal transduction and immune responses.

RAB11FIP2

LSAMP (Limbic System-Associated Membrane Protein): LSAMP is a cell adhesion molecule predominantly found in the limbic system of the brain. It plays a crucial role in synaptic plasticity and is involved in neural development and function. LSAMP has been researched concerning neuropsychiatric disorders and may have relevance for conditions like schizophrenia.

LSAMP

MT1X (Metallothionein 1X): MT1X is a member of the metallothionein family, proteins that play key roles in metal ion balance and detoxification, as well as protecting cells from oxidative stress. Metallothioneins bind heavy metals, helping to neutralise their toxicity and support their metabolism and elimination. MT1X, like other metallothioneins, is involved in responses to heavy metal exposure, oxidative stress, and inflammation, and is linked to various diseases, including cancer, due to its influence on cell growth and programmed cell death.

MT1X

AK9 (Adenylate Kinase 9): Adenylate kinase 9 is a gene that encodes an enzyme from the adenylate kinase family, which catalyses the reversible transfer of phosphate groups between adenine nucleotides, primarily ATP and AMP. AK9 is localised to the mitochondria, where it supports energy metabolism and nucleotide balance. By facilitating ATP-AMP interconversion, it helps regulate cellular energy levels and contributes to processes such as mitochondrial function, apoptosis, and stress responses. Dysregulation of AK9 may affect metabolic and cellular homeostasis.

PITX2 (Paired Like Homeodomain 2): PITX2 is a transcription factor that plays a vital role in the development of multiple organ systems, including the eyes, heart, and abdominal organs. It is involved in establishing the body’s left-right asymmetry. Mutations in PITX2 are associated with Axenfeld-Rieger syndrome, a condition affecting the eyes and other organs. Understanding PITX2 is essential for developmental biology and for exploring treatments for related congenital disorders.

PITX2

P2RY1 (Purinergic Receptor P2Y1): P2RY1 is a G-protein coupled receptor that responds to extracellular nucleotides such as ATP and ADP. It plays a crucial role in intracellular signalling pathways involved in platelet aggregation, regulation of vascular tone, and neurotransmission. Activation of P2RY1 is vital for initiating platelet aggregation following vessel injury, emphasising its importance in thrombosis and haemostasis. Dysregulation of P2RY1 signalling is linked to an increased risk of cardiovascular diseases, highlighting its significance in vascular health.

P2RY1

TBX2 (T-Box Transcription Factor 2): TBX2 is a gene that produces a transcription factor from the T-box family. It is essential for embryonic development and tissue differentiation, especially in the formation of the heart and limbs.

TBX2

PCDH7 (Protocadherin 7): PCDH7 is a gene that encodes a protein belonging to the cadherin superfamily, involved in cell adhesion and neuronal connectivity. It plays a role in the development of the nervous system and the maintenance of synaptic functions. Variations in PCDH7 have been associated with neurodevelopmental and psychiatric disorders, underscoring its significance in brain development and function.

PCDH7

SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1): SVEP1 is a cell adhesion molecule that supports the development of the cardiovascular and lymphatic systems. It plays a role in cell-cell interactions and signaling pathways essential for vascular stability and immune function. Variations in SVEP1 have been linked to cardiovascular conditions and may affect immune-related disorders.

SVEP1

MAP4K1 (Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1): MAP4K1 is a signaling protein, also known as HPK1 (Hematopoietic Progenitor Kinase 1), and a member of the STE20 kinase family. It plays an important role in immune cell signaling, regulating T cell activation and differentiation by acting upstream in the MAP kinase pathway. Through its role in modulating immune responses, MAP4K1 is considered a potential target for immunotherapy, particularly in autoimmune disorders and cancer.

MAP4K1

R3HCC1L (R3H Domain and Coiled-Coil Containing 1-Like): R3HCC1L is a gene that is less well characterized but is believed to be involved in RNA binding and regulation. Its domain structure suggests a role in RNA metabolism and cellular processes. Although its precise functions are still being studied, R3HCC1L may have implications for human health and disease.

R3HCC1L

KCNK17 (Potassium Channel Subfamily K Member 17): KCNK17 is a gene that encodes a component of the two-pore domain potassium (K⁺) channel family. It plays a crucial role in ion channel function and is involved in regulating cellular excitability and membrane potential.

KCNK17

SETBP1 (SET Binding Protein 1): SETBP1 is a protein that interacts with SET, a key regulator of histone acetylation and chromatin remodeling. SETBP1 plays a role in gene regulation and has been associated with developmental disorders and leukemia.

SETBP1

PTBP2 (Polypyrimidine Tract Binding Protein 2): PTBP2 is a gene that encodes an RNA-binding protein involved in RNA splicing and regulation of gene expression. It plays a key role in neuronal development and has been implicated in neurodevelopmental disorders.

PTBP2

DRD1 (Dopamine Receptor D1): DRD1 is a gene that encodes a key dopamine receptor in the brain, playing a vital role in the dopaminergic system. It is involved in regulating reward, motivation, and motor control. Dysregulation of DRD1 has been associated with psychiatric disorders, including schizophrenia, as well as addictive behaviours.

DRD1

DRD3 (Dopamine Receptor D3): DRD3 is a gene that encodes a dopamine receptor subtype expressed in the brain. It is involved in regulating cognitive, emotional, and motor functions. Variants in DRD3 have been studied for their potential roles in schizophrenia, Parkinson’s disease, and susceptibility to addictive behaviours.

DRD3

LMCD1 (LIM and Cysteine-Rich Domains 1): LMCD1 is a gene that encodes a protein involved in cardiac development and function. It plays a key role in regulating gene expression in heart muscle cells, influencing the development, structure, and maintenance of cardiac tissue. Alterations or dysfunctions in LMCD1 may impact heart performance and are associated with cardiovascular diseases, highlighting its importance in understanding cardiac disorders and potential therapeutic targets.

LMCD1

TSPOAP1 (TSPO Associated Protein 1): TSPOAP1 is a gene that encodes a protein linked with the translocator protein (TSPO), involved in mitochondrial function and steroid production. It plays a role in regulating cholesterol transport and mitochondrial respiration. Although its specific functions are still under investigation, TSPOAP1 may impact cellular energy metabolism and could be relevant to neurodegenerative diseases and mood disorders.

TSPOAP1

NAA38 (N-Alpha-Acetyltransferase 38, NatC Catalytic Subunit): NAA38 is a part of the N-terminal acetyltransferase complex that catalyzes the transfer of acetyl groups to the N-terminus of proteins. This modification affects protein stability, localization, and function. Although the exact biological roles and substrate specificity of NAA38 are not yet fully understood, N-terminal acetylation is a common and important post-translational modification. Research on NAA38 and similar enzymes helps uncover regulatory mechanisms of protein function and the effects of protein acetylation on cellular processes and diseases.

NAA38

MYBPC3: The MYBPC3 gene encodes cardiac myosin-binding protein C, a crucial regulator of heart muscle contraction. Variants in this gene commonly cause hypertrophic cardiomyopathy, a leading cause of sudden cardiac death, especially among young athletes. It plays a vital role in preserving normal cardiac muscle structure and function.

MYBPC3

PFKP (Phosphofructokinase, Platelet): PFKP is a crucial enzyme in the glycolytic pathway that controls the rate of glucose metabolism. It catalyses the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is vital for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly seen.

PFKP

ILRUN, also known as interleukin-like RUN domain-containing protein, is a newly identified protein that plays a role in immune regulation. Located in the cytoplasm, ILRUN contains a RUN domain, which enables protein-protein interactions. Although its precise function is still under investigation, ILRUN is believed to regulate immune responses, possibly influencing cytokine production, activation of immune cells, and inflammatory processes. It has also been proposed as a potential biomarker for certain immune-related or inflammatory disorders.

ILRUN

CLEC12A (C-Type Lectin Domain Family 12 Member A): CLEC12A encodes a protein that is part of the C-type lectin-like receptor family. It plays a key role in the immune system by participating in cell signalling pathways that regulate immune responses, particularly in myeloid cells. CLEC12A has been extensively studied for its role in inflammation and leukaemia.

TNR

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