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The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.

<p>The GetTested DNA Immunity & Inflammation test reveals your genetic tendencies towards inflammation, autoimmune diseases, allergies, and infections. By examining genes linked to conditions like CRP (inflammation), psoriasis, and gluten sensitivity (celiac disease), as well as your response to common allergens and pathogens, it offers a deep dive into how your immune system functions.</p>

DNA Immunity & Inflammation Test

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

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

DNA Brain Health Test

PTGER3 (Prostaglandin E Receptor 3): PTGER3 is a gene that encodes one of the four receptors for prostaglandin E2, a lipid compound involved in various physiological processes such as inflammation, gastric mucosal protection, and smooth muscle function. This receptor plays a key role in mediating cellular responses to prostaglandin E2, affecting pain perception, fever response, and may contribute to cancer progression and inflammatory diseases.

PTGER3

MPZL2 (Myelin Protein Zero-Like 2): MPZL2 is a gene that encodes a protein belonging to the myelin protein zero (MPZ) family, involved in the formation and maintenance of myelin in the peripheral nervous system. Myelin is essential for the efficient transmission of nerve impulses. Mutations in myelin-related genes like MPZL2 may contribute to peripheral neuropathies.

MPZL2

POLK (DNA Polymerase Kappa): POLK is a gene that encodes a member of the Y-family DNA polymerases involved in translesion DNA synthesis. This process allows DNA replication to continue past damaged sites, such as UV-induced lesions or bulky chemical adducts. POLK helps maintain genome stability by preventing replication fork stalling but can also introduce mutations due to its error-prone nature, making it important in DNA repair and mutagenesis.

POLK

PON1 (Paraoxonase 1): PON1 is a gene that encodes a member of the Y-family DNA polymerases involved in translesion DNA synthesis. This process allows DNA replication to continue past damaged sites, such as UV-induced lesions or bulky chemical adducts. POLK helps maintain genome stability by preventing replication fork stalling but can also introduce mutations due to its error-prone nature, making it important in DNA repair and mutagenesis.

PON1

FGF13 (Fibroblast Growth Factor 13): FGF13 is a member of the fibroblast growth factor (FGF) family that plays a crucial role in cellular growth and differentiation. This protein functions as a key regulator in various cellular processes, particularly influencing cell development and specialization. In neuroscience, FGF13 is well-known for its role in supporting neuron function. Researchers are actively investigating FGF13 to gain a better understanding of its involvement in neurological disorders and its potential to advance knowledge of brain and nervous system conditions.

FGF13

RNF212B (Ring Finger Protein 212B): RNF212B is a protein that shares homology with RNF212, which is known to play a role in meiotic recombination and chromosome segregation during meiosis. Given this similarity, RNF212B may also be involved in genetic recombination or chromosome segregation, potentially impacting fertility and genetic stability.

RNF212B

MACROD2 (MACRO Domain Containing 2): MACROD2 is a gene involved in the ADP-ribosylation process, a post-translational modification important for DNA repair, gene expression, and signal transduction. It plays a role in regulating genomic stability and cellular responses to stress. Alterations in MACROD2 have been linked to various cancers and neurological disorders, highlighting its significance in DNA repair and stress response mechanisms.

MACROD2

PPIF (Peptidylprolyl Isomerase F): PPIF, also known as cyclophilin D, is a vital mitochondrial enzyme that regulates the mitochondrial permeability transition pore (MPTP). This pore is crucial in governing cell death processes such as apoptosis and necrosis. PPIF’s activity is fundamental in these pathways, and its inhibition has been explored as a potential therapeutic strategy for conditions like ischemia-reperfusion injury, including heart attack and stroke.

PPIF

JAZF1 (JAZF Zinc Finger 1): JAZF1 is a gene linked to endometrial cancer and reproductive health. It is involved in regulating gene expression and cellular functions within the endometrium.

JAZF1

CHD1L (Chromodomain Helicase DNA Binding Protein 1-Like): CHD1L is part of the chromodomain helicase DNA-binding family, involved in chromatin remodelling and DNA repair. It plays a vital role in maintaining genomic stability and has been associated with the development and progression of various cancers, particularly liver cancer.

CHD1L

UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5): UBR5 is a gene that encodes an E3 ubiquitin ligase involved in protein degradation through the ubiquitin-proteasome pathway. It plays a key role in regulating protein stability and turnover. Dysfunctions in UBR5 can affect various cellular processes and are linked to cancer development and neurodegenerative diseases. Understanding UBR5 is important for studying protein homeostasis and cellular quality control.

UBR5

NOS3 (Nitric Oxide Synthase 3): NOS3 is a gene that encodes an enzyme responsible for producing nitric oxide (NO) in blood vessels. This enzyme plays a key role in regulating vascular endothelial function, including vasodilation and blood pressure control. Variations in NOS3 are linked to cardiovascular disease risks such as hypertension and coronary artery disease.

NOS3

CCND1 (Cyclin D1): CCND1 is a gene that encodes cyclin D1, a key protein involved in regulating the cell cycle. Cyclins, including cyclin D1, coordinate the progression of the cell cycle, with CCND1 playing a crucial role in promoting cell division and proliferation. Dysregulation of CCND1 is commonly associated with various cancers, highlighting its significance as an important oncogene.

CCND1

TRPM8 (Transient Receptor Potential Cation Channel Subfamily M Member 8): TRPM8 is a gene that encodes a calcium channel sensitive to cold temperatures. It is primarily expressed in sensory neurons and plays a key role in the perception of cold and the modulation of pain. Activation of TRPM8 by cold or certain chemicals triggers the sensation of cold.

TRPM8

PDE10A (Phosphodiesterase 10A): PDE10A is a gene that encodes the enzyme phosphodiesterase 10A, which regulates intracellular signalling by breaking down cyclic nucleotides, mainly cAMP and cGMP. This enzyme is primarily expressed in the brain and plays a key role in neuronal signalling. PDE10A has also been linked to various neurological and psychiatric disorders.

PDE10A

KEL (Kell Blood Group): KEL is a gene linked to blood group antigens and plays a crucial role in blood transfusion compatibility. It affects antigenic markers on the surface of red blood cells, influencing transfusion reactions and compatibility testing.

KAZN (Kazrin, Periplakin Interacting Protein): KAZN is a protein that interacts with periplakin and is involved in cellular processes related to cytoskeletal organisation and cell adhesion. It may contribute to skin integrity and wound healing, although its broader biological roles are still under investigation.

KAZN

XYLT1 (Xylosyltransferase 1): XYLT1 is an enzyme involved in the biosynthesis of proteoglycans, which are essential components of the extracellular matrix. It catalyzes the attachment of xylose to specific serine residues in proteoglycans, a crucial step in the formation of connective tissue. Mutations in XYLT1 can lead to skeletal and connective tissue disorders, highlighting its importance in tissue development and maintenance.

XYLT1

TIMELESS is a gene involved in regulating circadian rhythms and DNA replication. It interacts with other circadian clock genes to help control the body’s internal clock and may influence sleep-wake cycles and overall circadian regulation.

TIMELESS

AR (Androgen Receptor): AR is a nuclear receptor protein that binds to androgens (male sex hormones) and plays a key role in male sexual development and function. It regulates the development of male secondary sexual characteristics and serves as a target for androgen-based therapies. Mutations in the AR gene can affect androgen-related processes and lead to various disorders.

MPC1 (Mitochondrial Pyruvate Carrier 1): MPC1 is a gene involved in mitochondrial function and energy metabolism. It plays a crucial role in transporting pyruvate into mitochondria, which is vital for energy production. Dysregulation of MPC1 can impact mitochondrial metabolism and cellular energy balance.

MPC1

MS4A13 (Membrane Spanning 4-Domains A13): MS4A13 is a gene that belongs to the MS4A family, which is involved in signal transduction and cellular activation. While the specific role of MS4A13 is not well understood, members of this family play important roles in immune responses and have been linked to diseases such as Alzheimer’s.

MS4A13

TREH (Trehalase): TREH is a gene that encodes the enzyme trehalase, which is involved in breaking down trehalose, a disaccharide sugar. Trehalase plays an important role in carbohydrate metabolism, especially in the gut where trehalose is hydrolyzed. Deficiencies in trehalase activity can cause trehalose intolerance, leading to gastrointestinal symptoms after trehalose consumption.

TREH

SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10): SCN10A is a gene that encodes a member of the voltage-gated sodium channel family, which is essential for initiating and propagating action potentials in neurons and other excitable cells. This channel is primarily expressed in peripheral sensory neurons and plays a key role in pain sensation and nociception. Changes in SCN10A function or expression have been linked to various pain disorders, including neuropathic pain and inherited erythromelalgia, a condition marked by burning pain and redness in the extremities. The channel also contributes to cardiac electrophysiology.

SCN10A

RASEF (RAS And EF-Hand Domain Containing): RASEF is a gene that encodes a protein containing both RAS and EF-hand domains, suggesting a role in signal transduction and calcium binding. Although its precise functions are still under investigation, RASEF may be involved in cellular processes such as cell growth and differentiation.

RASEF

CEP120 (Centrosomal Protein 120): CEP120 is a protein crucial for centriole duplication and maintenance. It plays a vital role in organizing the microtubule cytoskeleton, which is essential for cell division and intracellular transport. Mutations in CEP120 have been associated with ciliopathies and developmental disorders.

CEP120

MYLK (Myosin Light Chain Kinase): MYLK is a gene that encodes an enzyme essential for smooth muscle contraction. It phosphorylates myosin light chains, enabling actin-myosin interaction, and plays a key role in regulating vascular tone and blood pressure. MYLK also contributes to other smooth muscle functions, including gastrointestinal motility and airway resistance. Changes in MYLK function or expression have been linked to conditions such as asthma, hypertension, and certain cancers.

MYLK

ITIH3 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 3): ITIH3 is a protein belonging to the inter-alpha-trypsin inhibitor family, which is involved in stabilizing the extracellular matrix and regulating inflammation. It contributes to tissue repair and safeguards against protease-induced tissue damage. Dysregulation of ITIH3 has been linked to cancer progression and inflammatory disorders, underscoring its importance in tissue homeostasis and the immune response.

ITIH3

PDE3A (Phosphodiesterase 3A): PDE3A is an enzyme that helps regulate cyclic nucleotides in the body. It plays a key role in cardiovascular function and lipid metabolism, being important for controlling blood vessel tone and heart contractility. PDE3A inhibitors are commonly used in the treatment of certain cardiovascular diseases.

PDE3A

ABO (ABO Blood Group System): ABO is a gene that determines an individual’s ABO blood group. It encodes enzymes that modify glycoproteins and glycolipids on the surface of red blood cells, resulting in the different blood types (A, B, AB, and O). Variations in this gene are important for blood transfusion compatibility and have also been linked to risks for cardiovascular diseases and certain cancers.

CCDC158 (Coiled-Coil Domain Containing 158): CCDC158 is a gene that encodes a protein characterized by coiled-coil domains. Proteins with these domains often play important roles in protein-protein interactions and are involved in cellular structural organization or signaling pathways.

CCDC158

NLRC5 (NOD-Like Receptor C5): NLRC5 is a member of the NOD-like receptor family that plays a key role in the immune system. It is involved in regulating MHC class I genes, which are essential for the immune system’s ability to detect and respond to pathogens. Dysfunctions in NLRC5 can lead to immune system imbalances and have been linked to several autoimmune disorders.

NLRC5

RGS13 (Regulator of G Protein Signaling 13): RGS13 is a protein that regulates G protein-coupled receptor (GPCR) signalling. It plays a crucial role in modulating the signal transduction of specific hormones and neurotransmitters. RGS13 is particularly significant in immune cells such as mast cells and B cells, where it helps regulate allergy and immune responses.

RGS13

HLA-B (Human Leukocyte Antigen B): HLA-B is a gene that encodes a major histocompatibility complex (MHC) class I protein. These proteins are essential for presenting antigens to immune cells and play a central role in the adaptive immune response. The diversity of HLA-B contributes to an individual’s immune system ability to recognise and respond to various pathogens.

HLA-B

PLCB1 (Phospholipase C Beta 1): PLCB1 is a gene that encodes an enzyme involved in signal transduction pathways. This enzyme catalyses the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to generate inositol trisphosphate (IP3) and diacylglycerol (DAG), both important second messengers. PLCB1 plays a role in various cellular processes, including cell proliferation, differentiation, and neurotransmitter release.

PLCB1

TJP1 (Tight Junction Protein 1): TJP1 is a gene that encodes a protein crucial for the formation and maintenance of tight junctions in epithelial and endothelial cells. It plays an important role in cell polarity and barrier function, which are vital for tissue integrity. Alterations in TJP1 have been associated with diseases such as cancers and conditions involving barrier dysfunction.

TJP1

NCF4 (Neutrophil Cytosolic Factor 4): NCF4 is a gene that encodes a part of the NADPH oxidase complex, which plays a crucial role in immune defense against pathogens. It aids in generating reactive oxygen species in phagocytes, which are essential for killing microbes. Mutations in NCF4 have been associated with chronic granulomatous disease, a condition characterized by recurrent bacterial and fungal infections.

NCF4

SGCD (Sarcoglycan Delta): SGCD is a protein that forms part of the dystrophin-glycoprotein complex, crucial for preserving muscle integrity and function. Mutations in SGCD are associated with limb-girdle muscular dystrophy, a group of genetic disorders marked by gradual weakening and wasting of the muscles around the hips and shoulders.

SGCD

PRDM6 (PR Domain Containing 6): PRDM6 is a member of the PRDM family of transcriptional regulators, known for its role in epigenetic modifications and gene expression regulation. It primarily acts as a transcriptional repressor, influencing cardiovascular development and other systems by modulating genes involved in cell differentiation, proliferation, and apoptosis. PRDM6 is especially important in vascular development and smooth muscle cell differentiation, where its precise regulation supports normal blood vessel formation and cardiovascular balance. Dysregulation of PRDM6 has been linked to various conditions, including hypertension and vascular remodeling.

PRDM6

TGFBR2 (Transforming Growth Factor Beta Receptor 2): TGFBR2 is a gene that encodes a crucial component of the TGF-beta signalling pathway, which regulates cell growth, differentiation, and immune responses. Mutations in TGFBR2 are associated with hereditary conditions such as hereditary haemorrhagic telangiectasia (HHT) and may contribute to the onset of certain cancers.

TGFBR2

POU3F3 (POU Class 3 Homeobox 3): POU3F3 is a member of the POU family of transcription factors, involved in regulating gene expression during nervous system development. It plays a crucial role in the differentiation and maintenance of neural progenitor cells, influencing the formation of various brain regions. Mutations or dysregulation of POU3F3 have been associated with neurodevelopmental disorders and may contribute to certain psychiatric conditions.

POU3F3

PCCB (Propionyl-CoA Carboxylase Beta Chain): PCCB is an enzyme involved in the metabolism of certain amino acids, fatty acids, and cholesterol. Mutations in PCCB can lead to propionic acidemia, a rare metabolic disorder characterised by the accumulation of toxic substances, which may result in neurological and systemic symptoms.

PCCB

GPR151 (G Protein-Coupled Receptor 151): GPR151 is a gene that encodes a G protein-coupled receptor (GPCR). GPCRs participate in cell signalling and respond to various signalling molecules. Although the specific function of GPR151 is still under investigation, it may have a role in neural and metabolic processes.

GPR151

NADSYN1 (NAD Synthetase 1): NADSYN1 is a gene involved in the synthesis of NAD (nicotinamide adenine dinucleotide), a vital coenzyme in redox reactions. NADSYN1 plays a key role in various metabolic processes, and its function is increasingly acknowledged in connection with ageing, cell death, and certain chronic diseases.

NADSYN1

PTPRD (Protein Tyrosine Phosphatase Receptor Type D): PTPRD is a protein that acts as a tyrosine phosphatase receptor involved in cell signalling and regulation. It regulates cellular processes by removing phosphate groups from specific protein substrates. PTPRD has been researched for its role in cancer, where it may function as a tumour suppressor.

PTPRD

BHLHE41 (Basic Helix-Loop-Helix Family, Member E41): BHLHE41, also known as DEC2, is a transcription factor involved in regulating circadian rhythms and sleep. Variations in this gene are linked to the natural short sleep phenotype, where individuals function well with less sleep than average. Studying BHLHE41 may offer insights into sleep disorders and circadian rhythm regulation.

BHLHE41

GLIS3 (GLIS Family Zinc Finger 3): GLIS3 is a transcription factor that regulates gene expression in several biological processes, including thyroid hormone signaling and the development of pancreatic beta cells. Mutations in GLIS3 have been linked to conditions such as congenital hypothyroidism and neonatal diabetes, underscoring its crucial role in endocrine function and development.

GLIS3

SIM1 (Single-Minded Homolog 1): SIM1 is a transcription factor that plays a crucial role in the development of certain brain regions, including the hypothalamus. It is involved in controlling appetite and maintaining energy balance. Mutations in SIM1 have been associated with obesity and various metabolic disorders.

SIM1

TTN (Titin): TTN is one of the largest proteins in the human body, primarily located in muscle tissues. It plays a crucial role in muscle contraction and elasticity. TTN acts like a molecular spring, providing structural support to muscle fibres and enabling them to contract and relax efficiently. Mutations in the TTN gene are associated with several muscle-related disorders, including muscular dystrophy and cardiomyopathy.

KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3): KCND3 encodes a voltage-gated potassium channel protein predominantly found in the heart and brain. It plays a key role in regulating the electrical activity of cardiac and neuronal cells, with mutations in KCND3 associated with certain heart rhythm disorders and neurodevelopmental conditions.

KCND3

COG6 (Component Of Oligomeric Golgi Complex 6): COG6 is a crucial component of the COG complex, which is vital for normal Golgi apparatus function and vesicular transport. It plays an important role in maintaining the structure of the Golgi and ensuring correct glycosylation of proteins, an essential post-translational modification. Mutations in COG6 can result in congenital disorders of glycosylation, causing a range of clinical manifestations including developmental delays and neurological issues.

COG6

PIK3R1 (Phosphoinositide-3-Kinase, Regulatory Subunit 1): PIK3R1 is a gene that encodes a regulatory subunit of phosphoinositide 3-kinase (PI3K), an essential component in signalling pathways that control cell growth, proliferation, and survival. Mutations in PIK3R1 are linked to various cancers and serve as targets for cancer therapies. Additionally, it plays a role in insulin signalling and is associated with diabetes and metabolic syndromes.

PIK3R1

MTRES1 (Mitochondrial tRNA Editing Site 1): MTRES1 is a gene involved in the editing of mitochondrial tRNA (transfer RNA). tRNAs are essential molecules for protein synthesis within mitochondria. MTRES1 likely plays a crucial role in ensuring the accuracy of mitochondrial protein translation by editing tRNAs.

MTRES1

COL13A1 (Collagen Type XIII Alpha 1 Chain): COL13A1 encodes a transmembrane collagen that plays a role in the structure and function of connective tissues. It facilitates cell adhesion, preserves muscle integrity, and stabilizes the neuromuscular junction. Alterations in COL13A1 activity are associated with muscle disorders and are under investigation for their role in connective tissue diseases and cancer metastasis.

COL13A1

PFKFB3, or 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, is an enzyme that plays a key role in cellular energy metabolism, specifically in glycolysis. It regulates the levels of fructose-2,6-bisphosphate (F2,6BP), a powerful allosteric activator of 6-phosphofructo-1-kinase (PFK-1), which is a critical enzyme in glycolysis. By controlling F2,6BP levels, PFKFB3 promotes PFK-1 activity, enhancing the conversion of fructose-6-phosphate (F6P) to fructose-1,6-bisphosphate (F1,6BP) and boosting the flow of glucose through the glycolytic pathway.

PFKFB3

SEM1 (Semaphorin 1): SEM1, also known as 26S proteasome complex subunit DSS1, is a protein involved in DNA repair and regulation of protein degradation through the proteasome. It helps maintain cellular protein balance and genomic integrity. Dysfunction of SEM1 may contribute to cancer and other diseases linked to proteasome malfunction.

SEM1

ST18 (Suppression of Tumorigenicity 18): ST18 is a gene associated with tumor suppression and the regulation of inflammation. It may assist in controlling cell growth and modulating immune responses, thereby contributing to the prevention of tumor development.

ST18

HMCN1 (Hemicentin 1): HMCN1 is a large extracellular matrix protein that plays a crucial role in cell adhesion and maintaining tissue integrity. It is particularly important in the eye, contributing to the structure of the retina and vitreous body. Mutations in HMCN1 have been associated with age-related macular degeneration and other ocular conditions.

HMCN1

TBX20 (T-Box 20): TBX20 is a gene that encodes a transcription factor crucial for heart development and function. It plays a vital role in cardiac cell differentiation and heart morphogenesis. Mutations in TBX20 are associated with congenital heart defects and cardiomyopathies.

TBX20

CNR2 (Cannabinoid Receptor 2): CNR2 is a G protein-coupled receptor that binds cannabinoids and is primarily expressed in the immune system. It plays a crucial role in regulating immune responses, inflammation, and pain. Activation of CNR2 can lead to anti-inflammatory and immunosuppressive effects, making it an important target for treating inflammatory diseases, pain, and conditions requiring immune modulation. Understanding the function of CNR2 offers promising therapeutic potential for autoimmune disorders, chronic pain, and other related ailments.

CNR2

TENM3 (Teneurin-3): TENM3 is a gene that encodes a transmembrane protein from the teneurin family, which functions as a multifunctional regulator in neural development and synaptic connectivity. This protein directs axonal pathfinding, dendritic growth, and synaptic organisation, playing a key role in forming and refining neural circuits. Beyond development, TENM3 also supports synaptic maintenance and plasticity in the adult nervous system, influencing processes such as synaptic pruning and neurotransmitter release. Dysregulation of TENM3 has been linked to neurological disorders including autism spectrum disorders and schizophrenia, emphasising its crucial role in brain function.

TENM3

FAM240C (Family With Sequence Similarity 240 Member C): FAM240C is a gene that is not yet well understood, with its function still under investigation. Like other members of its family, it may play roles in cellular processes such as cell division and signal transduction.

FAM240C

TMEM106B (Transmembrane Protein 106B): TMEM106B is a gene that encodes a protein involved in lysosomal function and neuronal health. Variants in TMEM106B have been linked to neurodegenerative diseases, including frontotemporal lobar degeneration. Its role in maintaining neuronal function and lysosomal homeostasis makes it important for studying mechanisms behind neurodegeneration.

TMEM106B

TOP1 (DNA Topoisomerase I): TOP1 is a gene that encodes the enzyme DNA topoisomerase I, which plays a key role in DNA replication and repair. This enzyme helps relieve torsional stress in DNA by creating temporary breaks in the double helix. TOP1 is essential for maintaining genomic stability and ensuring accurate DNA replication and transcription.

TOP1

CRHR2 (Corticotropin-Releasing Hormone Receptor 2): CRHR2 is a protein that binds corticotropin-releasing hormone, aiding in the regulation of the body's response to stress. It plays a role in stress signalling, metabolic regulation, and cardiovascular function, and has been researched for its connections to anxiety and heart-related conditions.

CRHR2

FAAH (Fatty Acid Amide Hydrolase): FAAH is an enzyme that breaks down endocannabinoids, which play key roles in pain perception, mood regulation, and appetite. By modulating endocannabinoid signalling, FAAH is a target of interest for developing therapies aimed at pain relief, anxiety, and certain neurological disorders.

FAAH

ASTN2 (Astrotactin 2): ASTN2 is a gene that encodes a neural adhesion protein involved in neuronal migration during brain development. It plays a key role in the formation of neural networks and overall brain structure. Genetic variations in ASTN2 have been linked to neurological disorders such as autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).

ASTN2

COL5A1 (Collagen Type V Alpha 1 Chain): COL5A1 is a gene that encodes a component of type V collagen, a protein essential for the structure and integrity of connective tissues. Variants in COL5A1 are linked to Ehlers-Danlos syndrome, a condition marked by joint hypermobility, skin hyperextensibility, and increased tissue fragility.

COL5A1

PEMT (Phosphatidylethanolamine N-Methyltransferase): PEMT is an enzyme that converts phosphatidylethanolamine into phosphatidylcholine in the liver, a crucial step for maintaining the structure of cell membranes and facilitating VLDL secretion. Its activity influences liver function, fat metabolism, and choline requirements, with imbalances associated with liver and cardiovascular disease risk.

PEMT

TAMM41 (TAM41 Mitochondrial Translocator Assembly and Maintenance Protein): TAMM41 is a mitochondrial protein involved in phospholipid biosynthesis. It supports the maintenance of mitochondrial membranes and the proper function of the electron transport chain, which is essential for cellular energy production. TAMM41 is studied for its role in mitochondrial physiology and its potential links to metabolic and mitochondrial disorders.

TAMM41

NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2): NR5A2, also known as LRH-1, is a nuclear receptor that regulates key processes such as cholesterol homeostasis, bile acid synthesis, and steroid hormone production. It also plays a crucial role in pancreatic development and function. Altered NR5A2 activity has been associated with metabolic disorders and various cancers, particularly those affecting the gastrointestinal tract.

NR5A2

KL (Klotho): KL encodes a protein associated with aging and lifespan. Klotho plays a role in regulating calcium and phosphate metabolism and is thought to inhibit aging-related processes. It is a key focus in aging studies for its potential to prolong life and enhance health during aging.

FCGR3A (Fc Fragment Of IgG Receptor IIIa): FCGR3A, also known as CD16a, is a receptor that binds to the Fc region of immunoglobulin G (IgG). It is expressed on natural killer cells, macrophages, and some T cells, where it mediates antibody-dependent cellular cytotoxicity (ADCC) and aids in clearing pathogens and antibody-coated cells. Variations in FCGR3A can influence autoimmune disease risk and responses to cancer immunotherapy.

FCGR3A

REL (REL Proto-Oncogene, NF-KB Subunit): REL is a member of the NF-κB family of transcription factors that regulate immune responses, inflammation, cell growth, and survival. It controls the expression of genes involved in cell proliferation and apoptosis, and its abnormal activity has been linked to inflammatory diseases and certain cancers, especially lymphomas.

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

HOMER1

KDSR (3-Ketodihydrosphingosine Reductase): KDSR is an enzyme that plays a crucial role in sphingolipid metabolism. It converts 3-ketodihydrosphingosine into dihydrosphingosine, an essential precursor for ceramide and sphingolipid synthesis. These molecules are vital for maintaining cell membrane structure and supporting cell signalling processes.

KDSR

TMEM132B (Transmembrane Protein 132B): TMEM132B is a membrane-bound protein involved in neuronal signaling and synaptic plasticity. It has been associated with anxiety-related traits and is being studied for its potential role in anxiety and mood disorders.

TMEM132B

PCDH8 (Protocadherin 8): PCDH8 is a gene that encodes a protein belonging to the protocadherin family, which are cell adhesion molecules crucial for forming and maintaining neural networks. It plays a vital role in synaptic plasticity, which is important for learning and memory. Dysregulation of PCDH8 has been associated with neurodevelopmental disorders and is also under study for its potential role in tumour suppression due to its function in cell-to-cell communication and nervous system signalling.

PCDH8

DAB1 (Disabled Homolog 1): DAB1 is a protein vital for brain development, especially in regulating the positioning and movement of neurons. It plays a crucial role in the Reelin signaling pathway, which directs the organisation of brain structures during early development. Mutations in DAB1 can cause neurological disorders by disrupting the formation of proper neural networks.

DAB1

HHEX (Hematopoietically Expressed Homeobox): HHEX is a transcription factor that regulates genes involved in embryonic development and blood cell formation. It plays key roles in the development of the liver, thyroid, and pancreas, as well as in the differentiation of blood cells. Altered HHEX activity has been linked to developmental disorders and certain cancers, including leukaemia.

HHEX

CCND3 (Cyclin D3): CCND3 is a protein that plays a crucial role in regulating the cell cycle, especially during the transition from the G1 phase to the S phase. Similar to CCND2, it is vital for proper cell division. Abnormalities or dysfunctions in CCND3 have been associated with various cancers, particularly lymphomas and leukemias.

CCND3

LCE3C (Late Cornified Envelope 3C): LCE3C is a gene that forms part of the late cornified envelope gene cluster, which helps create the cornified envelope in the epidermis. This structure is crucial for maintaining the skin's barrier function. Variations in LCE3C have been associated with skin conditions such as psoriasis, underlining its importance in skin integrity and immune responses.

LCE3C

UCN3 (Urocortin 3) is a peptide hormone belonging to the corticotropin-releasing factor (CRF) family, primarily expressed in brain regions involved in stress regulation, such as the hypothalamus, amygdala, and brainstem. It acts as a neuromodulator, influencing stress and anxiety responses by binding to specific CRF receptors and modulating neuronal activity.

UCN3

SEC16B (SEC16 Homolog B): SEC16B is a gene involved in regulating protein trafficking within cells, particularly in the transport pathway from the endoplasmic reticulum (ER) to the Golgi apparatus. It plays a key role in protein secretion and is crucial for cellular functions such as the ER stress response and protein quality control.

SEC16B

TAFA1 (TAFA Chemokine Like Family Member 1): TAFA1 is a small cytokine-like protein involved in immune regulation and neuronal communication. It belongs to a group of proteins that function as brain-specific chemokines or neurokines, playing crucial roles in the development and functioning of the nervous system.

TAFA1

ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor that binds chemokines without initiating a signal, functioning as a decoy to regulate the immune response. Previously called the Duffy antigen receptor for chemokines (DARC), ACKR1 affects leukocyte migration by capturing chemokines. It also has a crucial role in malaria resistance by acting as a receptor for Plasmodium vivax. Variations in ACKR1 can influence susceptibility to infections and autoimmune conditions, highlighting its significance in immunity and disease.

ACKR1

FBH1 (F-Box DNA Helicase 1): FBH1 is a gene that encodes a DNA helicase involved in DNA repair and replication. This enzyme plays a crucial role in maintaining genomic stability and preventing the accumulation of DNA damage. Dysfunction in FBH1 can lead to genomic instability, a common characteristic in cancer, underscoring its significance in cancer biology and the study of DNA repair mechanisms.

FBH1 (FBD4)

TEK (TEK receptor tyrosine kinase): TEK, also known as TIE2, is a receptor tyrosine kinase predominantly expressed in endothelial cells. It plays a vital role in angiogenesis and the maintenance of blood vessel integrity. TEK signalling is crucial for vascular development and has been linked to various vascular diseases, including venous malformations and angiosarcoma. Its role in angiogenesis also renders it a target for cancer therapy, particularly in tumours where the formation of new blood vessels is a key factor for growth and metastasis.

TRAPPC14 (Trafficking Protein Particle Complex 14): TRAPPC14 is a component of the TRAPP complex, which plays an essential role in vesicular transport within cells. This protein helps regulate trafficking between membranous organelles such as the endoplasmic reticulum, Golgi apparatus, and endosomes. TRAPPC14 is part of the cellular machinery that ensures precise delivery of cargo proteins and lipids across compartments, crucial for maintaining cellular homeostasis and function. Its role is particularly important in protein secretion, membrane formation, and organelle integrity.

TRAPPC14

IFNK (Interferon kappa): IFNK is a cytokine belonging to the interferon family that plays a key role in regulating immune responses, especially in skin and mucosal immunity. It helps modulate inflammation and antiviral defenses by interacting with specific receptors on target cells. IFNK is mainly expressed in epithelial tissues, where it supports defence against viruses, bacteria, and other pathogens. It also contributes to tissue homeostasis and the regulation of epithelial cell growth and differentiation. Dysregulation of IFNK signalling has been linked to various immune-related conditions.

IFNK

TLR4 (Toll-Like Receptor 4): TLR4 is a gene that encodes a protein belonging to the toll-like receptor family, essential for the innate immune system. It recognises bacterial lipopolysaccharides and plays a key role in triggering immune responses to pathogens. Dysregulation of TLR4 has been associated with various diseases, including sepsis, atherosclerosis, and autoimmune disorders.

TLR4

SMARCA2 (SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator of Chromatin, Subfamily A, Member 2): SMARCA2 is a gene that encodes a core component of the SWI/SNF chromatin remodeling complex. It plays a key role in regulating gene expression by modifying chromatin structure. Mutations in SMARCA2 are linked to disorders such as Nicolaides-Baraitser syndrome, which involves intellectual disability and sparse hair. Its function is essential for proper gene regulation and development.

SMARCA2

CAPS (Calcium-Activated Protease Substrate): CAPS is a protein that acts as a substrate for calcium-activated proteases, playing a crucial role in cellular processes regulated by intracellular calcium levels. It is involved in cell migration, division, and apoptosis—key functions for tissue development and repair. CAPS helps modulate cytoskeletal dynamics and cell adhesion, which are essential for maintaining cell structure and function. Its regulation through calcium signalling underscores its role in cellular homeostasis and responses to physiological and pathological conditions. Dysregulation of CAPS may contribute to various disease states.

CAPS

CDH23 (Cadherin-related 23): CDH23 encodes a protein that is part of the cadherin superfamily, known for its role in cell-cell adhesion. CDH23 is particularly important for the structure and function of the hair cells in the inner ear, which are responsible for hearing and balance. Mutations in CDH23 are associated with Usher syndrome and non-syndromic hearing loss, highlighting its significance for sensory function. Research on CDH23 focuses on understanding hearing mechanisms and developing treatments for related hearing impairments.

CDH23

ATP10B (ATPase Phospholipid Transporting 10B): ATP10B is a gene that encodes a protein belonging to the P-type ATPase family, involved in transporting lipids across cellular membranes. While its specific functions are not fully understood, ATP10B may play an important role in lipid metabolism and maintaining cellular homeostasis, with potential links to neurodegenerative diseases such as Parkinson’s.

ATP10B

NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a protein that acts as a post-transcriptional regulator, playing a crucial role in the development of germ cells. It is vital for sustaining germ cell viability and has been associated with research on infertility and germ cell tumors.

NANOS1

PPA2 (Inorganic Pyrophosphatase 2): PPA2 is a gene that encodes an enzyme responsible for catalysing the hydrolysis of pyrophosphate (PPi) into inorganic phosphate (Pi). This activity is important for cellular energy metabolism and nucleotide biosynthesis. Dysfunction in PPA2 may affect energy production and nucleotide metabolism.

PPA2

CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a component of the CCR4-NOT complex, which plays a crucial role in regulating gene expression through mechanisms such as mRNA degradation and transcriptional control. This gene is involved in multiple cellular processes, including immune response and development. Dysregulation of CNOT4 has been associated with cancer and other diseases, highlighting its importance in gene regulation and disease.

CNOT4

AUTS2 (Activator Of Transcription And Developmental Regulator AUTS2): AUTS2 is a gene involved in neurodevelopment and linked to autism spectrum disorder and intellectual disability. It plays a role in gene regulation and brain development, with mutations potentially affecting neural growth and function.

GSDMB

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