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GetTested’s DNA Hormone Health test analyses specific genes to assess hormone health, including T3, T4, Free T4, TSH, Testosterone, and FSH. This targeted approach helps identify genetic factors influencing hormone production and metabolism. Ideal for individuals experiencing hormone-related symptoms or those interested in personalized health insights, the test simplifies understanding your hormone profile through a straightforward saliva sample process. Results provide actionable recommendations, delivered with confidentiality and privacy assurance.

<p>GetTested’s DNA Hormone Health test analyses specific genes to assess hormone health, including T3, T4, Free T4, TSH, Testosterone, and FSH. This targeted approach helps identify genetic factors influencing hormone production and metabolism. Ideal for individuals experiencing hormone-related symptoms or those interested in personalized health insights, the test simplifies understanding your hormone profile through a straightforward saliva sample process. Results provide actionable recommendations, delivered with confidentiality and privacy assurance.</p>

DNA Hormone Health Test

CPED1 (Cadherin Like And PC-Esterase Domain Containing 1): CPED1 is involved in cell adhesion and signaling, though its precise biological functions are not fully elucidated. It may play a role in developmental processes and has been associated with body mass index and adiposity....



CPED1

LRRC32 (Leucine Rich Repeat Containing 32): LRRC32, also known as GARP, is a protein involved in regulating immune responses, particularly within T regulatory cells. It plays a key role in maintaining immune tolerance and preventing autoimmune reactions.

LRRC32

NEDD4L (NEDD4 Like E3 Ubiquitin Protein Ligase): NEDD4L is a gene that plays a crucial role in regulating ion transport and cellular signalling pathways. It is particularly important in controlling sodium and water balance, making it relevant to hypertension and cardiovascular health. Its function in maintaining homeostasis emphasises its significance in various health conditions.

NEDD4L

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a nuclear receptor that regulates lipid metabolism, particularly in the liver. It plays a key role in the breakdown of fatty acids, promoting their oxidation, and reducing triglyceride levels. PPARA also affects inflammatory pathways and is a therapeutic target for treating hyperlipidaemia.

PPARA

COL2A1 (Collagen Type II Alpha 1 Chain): COL2A1 is a gene that encodes type II collagen, a key structural protein found predominantly in cartilage. This collagen plays a vital role in maintaining cartilage strength and integrity. Mutations in COL2A1 are associated with several skeletal disorders, including osteoarthritis and various forms of chondrodysplasia.

COL2A1

TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyses the addition of nucleotides to the 3' end of RNA molecules. It plays a role in RNA processing and modification. Although its specific functions are still being studied, TENT5A may influence important cellular processes.

TENT5A

GLP1R (Glucagon-Like Peptide 1 Receptor): GLP1R is a receptor for the hormone GLP-1, which plays a key role in regulating insulin secretion and glucose metabolism. When activated by GLP-1 or its analogues, GLP1R enhances insulin release, reduces glucagon secretion, and promotes feelings of fullness, making it an important target in treatments for type 2 diabetes and obesity.

GLP1R

NT5DC2 (5'-Nucleotidase Domain Containing 2): NT5DC2 is an enzyme that may be involved in nucleotide metabolism. Although its specific biological functions have not been fully characterised, enzymes in this family generally play important roles in purine and pyrimidine metabolism, which are essential for DNA and RNA synthesis, cellular signalling, and energy transfer.

NT5DC2

PRICKLE1 (Prickle Planar Cell Polarity Protein 1): PRICKLE1 is a gene involved in the planar cell polarity pathway, which coordinates the orientation of cells within tissue planes. It plays a crucial role in neural development and function. Mutations in PRICKLE1 have been associated with epilepsy and neurodevelopmental disorders.

PRICKLE1

ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A is a G protein-coupled receptor that responds to the neurotransmitter noradrenaline. It plays a key role in regulating blood pressure, controlling vasoconstriction, and mediating the body’s fight-or-flight response.

ADRA2A

TAFA3 (TAFA Chemokine Like Family Member 3): TAFA3 is part of a family of proteins similar to chemokines, involved in immune responses and inflammation. Although its specific role is not fully understood, TAFA3 is believed to help regulate immune cell activity and may contribute to neuroinflammatory processes.

TAFA3

NEBL (Nebulette): NEBL is a gene that encodes a cardiac-specific actin-binding protein essential for the structural integrity and function of heart muscle cells. It plays a key role in organising the actin cytoskeleton, which influences cardiac muscle contraction and overall heart performance. Mutations in NEBL have been linked to cardiomyopathies, highlighting its important role in maintaining cardiac muscle structure and function.

NEBL

CD151 (Cluster of Differentiation 151): CD151 is a cell surface protein that belongs to the tetraspanin family. It plays a crucial role in cell adhesion, migration, and signal transduction by interacting with other proteins on the cell membrane. Through these interactions, CD151 helps regulate cellular communication and movement.

CD151

CNDP1 (Carnosine Dipeptidase 1): CNDP1 is a gene that encodes an enzyme responsible for breaking down carnosine, a dipeptide with potential antioxidant properties. This enzyme plays an important role in metabolic processes and is particularly relevant in diabetes, where it may help protect against diabetic nephropathy. Understanding CNDP1 is key to developing strategies for preventing diabetic complications.

CNDP1

KDR: KDR (also known as VEGFR2) is a gene that plays a central role in angiogenesis — the formation of new blood vessels. It encodes a receptor for vascular endothelial growth factor (VEGF), which is essential for blood vessel growth, development, and repair. Alterations in KDR can influence processes in cancer, where angiogenesis supports tumour growth, as well as in cardiovascular diseases.

IL1RL1 (Interleukin 1 Receptor Like 1): IL1RL1 is a receptor for interleukin-33 (IL-33), a cytokine involved in inflammation and allergic reactions. Also known as ST2, IL1RL1 mediates the effects of IL-33 in the immune system and plays a crucial role in conditions such as asthma, atopic dermatitis, and other allergic diseases. Its role in the IL-33 signalling pathway makes it a potential target for therapies aimed at treating allergic and inflammatory disorders.

IL1RL1

COPB1 (Coatomer Protein Complex Subunit Beta 1): COPB1 is a component of the coatomer protein complex involved in intracellular transport. It is essential for the movement of proteins between the endoplasmic reticulum and the Golgi apparatus, a process vital for proper cell function and accurate protein sorting.

COPB1

PGLYRP2 (Peptidoglycan Recognition Protein 2): PGLYRP2 is a member of the peptidoglycan recognition protein family, involved in innate immunity by detecting bacterial cell wall components and triggering antibacterial responses. It helps maintain intestinal barrier integrity, supports a balanced gut microbiome, and protects against bacterial infections. PGLYRP2 is also under investigation for its role in inflammatory bowel diseases and its potential as a therapeutic target in gut immunity and inflammation.

PGLYRP2

UBE3A (Ubiquitin Protein Ligase E3A): UBE3A is a gene that encodes an E3 ubiquitin ligase enzyme, which helps regulate protein degradation via the ubiquitin–proteasome pathway. It plays a crucial role in normal brain development and function. Mutations in UBE3A are associated with Angelman syndrome, a neurodevelopmental disorder characterised by intellectual disability, developmental delay, and distinctive behavioural features.

UBE3A

RAB28 (Ras-Related Protein Rab-28): RAB28 is a member of the RAB family of small GTPases, proteins involved in regulating intracellular vesicle trafficking. RAB28 contributes to vesicle transport and membrane dynamics within the cell.

RAB28

CLDN11 (Claudin 11): CLDN11 is a protein that forms part of tight junctions — structures essential for maintaining barrier integrity in tissues. It plays a key role in the central nervous system and testes, contributing to myelin sheath formation and spermatogenesis. Mutations in CLDN11 may result in neurological impairments and reproductive disorders.

CLDN11

IL16 (Interleukin 16): IL16 is a cytokine that functions as a chemoattractant for specific immune cells, helping to regulate immune responses and inflammation. It is involved in cellular signalling pathways and has been associated with various inflammatory and autoimmune conditions.

IL16

OLFM3 (Olfactomedin 3): OLFM3 is a protein belonging to the olfactomedin domain-containing family, predominantly expressed in the brain. It is believed to be involved in neural development and function, although its precise roles in the nervous system are still under investigation.

OLFM3

GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme that plays a crucial role in glycerol metabolism and lipid biosynthesis. It catalyses the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, a key step in lipid synthesis. This function is essential for maintaining energy storage and lipid balance in the body.

GPD2

OLIG1 (Oligodendrocyte Transcription Factor 1): OLIG1 is a transcription factor that regulates the development and maturation of oligodendrocytes — the cells responsible for producing myelin in the central nervous system. It plays a vital role in myelination, a process essential for efficient nerve signal transmission. Alterations or mutations in OLIG1 can disrupt myelin formation and are linked to demyelinating disorders such as multiple sclerosis.

OLIG1

LRRC4 (Leucine Rich Repeat Containing 4): LRRC4 (Leucine Rich Repeat Containing 4) is a protein predominantly expressed in the brain and involved in neural development. It contributes to the formation and maintenance of the nervous system, as well as neural cell adhesion and signalling. LRRC4 has been researched in connection with brain tumours, particularly gliomas, making it a key area of interest in neurobiology and cancer research.

LRRC4

GPR83 (G Protein-Coupled Receptor 83): GPR83 (G Protein-Coupled Receptor 83) is a receptor located in the brain that belongs to the G protein-coupled receptor (GPCR) family. It plays a role in regulating appetite and maintaining energy balance, and has been studied for its involvement in feeding behaviour and metabolic disorders.

GPR83

CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is a vital protein necessary for the formation and function of caveolae — small plasma membrane invaginations involved in processes such as endocytosis and signal transduction. It supports lipid metabolism, endothelial health, and cellular mechanoprotection. Mutations in CAVIN1 are linked to conditions like lipodystrophy and muscular dystrophies, emphasising its role in cell structure and metabolism.

CAVIN1

CRHR1 (Corticotropin-Releasing Hormone Receptor 1): CRHR1 is a receptor for corticotropin-releasing hormone, a key regulator of the body’s stress response. It plays a central role in the hypothalamic-pituitary-adrenal (HPA) axis, influencing stress regulation, mood, and behaviour. Dysregulation of CRHR1 has been linked to psychiatric conditions such as depression and anxiety.

CRHR1

MLKL (Mixed Lineage Kinase Domain-Like): MLKL is a protein that plays a central role in necroptosis, a regulated form of programmed cell death. It is involved in mediating inflammatory responses and has been linked to various conditions, including neurodegenerative diseases, ischaemic injury, and viral infections.

MLKL

CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a component of the CCR4-NOT complex, which regulates gene expression by controlling mRNA turnover and degradation. It is involved in various aspects of RNA metabolism and can influence key cellular processes such as development, differentiation, and stress response.

CNOT2

NBR1 (Neighbour Of BRCA1 Gene 1): NBR1 is a multifunctional autophagy receptor that regulates selective autophagy — the targeted degradation and recycling of cellular components. It helps remove ubiquitinated protein aggregates and damaged organelles, supporting cellular homeostasis and protection against stress. Its role in autophagy is closely linked to disease prevention, including neurodegenerative disorders, cancer, and age-related conditions, emphasising its importance in cellular health and longevity.

NBR1

SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter that assists in removing glutamate from the synaptic cleft. This process is vital for preventing excitotoxicity — a damaging condition caused by excessive glutamate leading to neuronal injury. Although it has been less studied than other glutamate transporters, SLC1A7 contributes to regulating glutamatergic signalling and may be significant in neurological disorders associated with disrupted glutamate neurotransmission.

SLC1A7

COQ5 (Coenzyme Q5 Homolog, Methyltransferase): COQ5 (Coenzyme Q5 Homolog, Methyltransferase) is an enzyme involved in the biosynthesis of coenzyme Q (CoQ), a vital molecule for mitochondrial energy production. It catalyses a crucial methylation step in the CoQ pathway. Mutations in COQ5 can cause CoQ deficiency, impacting mitochondrial function and contributing to energy metabolism disorders.

COQ5

SYNDIG1 (Synapse Differentiation Inducing 1): SYNDIG1 is a protein involved in the formation and differentiation of synapses within the nervous system. It plays a crucial role in synaptic plasticity and neuronal communication, both vital for learning and memory.

SYNDIG1

GNB5 (G Protein Subunit Beta 5): GNB5 is a protein component of heterotrimeric G proteins, which mediate cellular responses to external signals through signal transduction pathways. It plays crucial roles in regulating heart rate, vision, and neurotransmission, functioning in both the central and peripheral nervous systems. Variants in GNB5 have been linked to arrhythmias and neurodevelopmental disorders, emphasising its importance in studies of signal transduction and related diseases.

GNB5

SPATA5 (Spermatogenesis-Associated 5) is a gene involved in spermatogenesis, the process of sperm development. It plays a crucial role in male fertility by supporting proper sperm formation. Mutations in SPATA5 have been associated with fertility issues and male infertility.

SPATA5

CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a crucial role in cell adhesion, a process essential for cellular communication and development. It is particularly important in the nervous system and immune response. Mutations in CADM1 have been associated with several cancers and neurological disorders, highlighting its significance in both normal physiology and disease.

CADM1

CRYBB2 (Crystallin Beta-B2): CRYBB2 is a protein that belongs to the crystallin family and is primarily located in the lens of the eye. It is vital for maintaining lens clarity and its refractive properties. CRYBB2 supports the structural integrity of the lens and is essential for proper vision.

CRYBB2

GBE1 (Glycogen Branching Enzyme 1): GBE1 is an enzyme essential for glycogen synthesis, a vital process in energy metabolism. It facilitates the formation of glycogen’s branched structure. Mutations in GBE1 can cause glycogen storage disease type IV, resulting in abnormal glycogen accumulation in cells and impairing liver and muscle function.

GBE1

IKZF1 (IKAROS Family Zinc Finger 1): IKZF1 is a gene that encodes a zinc finger transcription factor essential for immune cell development and differentiation, particularly in B cells. Mutations in IKZF1 are common in B-cell acute lymphoblastic leukaemia (B-ALL), underscoring its key role in haematopoiesis and immune regulation. Its interactions with other genes and its role in maintaining immune balance make it a focus of research in both immunology and oncology.

IKZF1

PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1): PIEZO1 is a mechanically activated ion channel that detects physical forces such as pressure and stretch in tissues like blood vessels and the lungs. It is essential for vascular development, blood pressure regulation, and cell volume control. Variants in the PIEZO1 gene are linked to hereditary xerocytosis — a disorder characterised by dehydrated red blood cells — and other conditions affecting mechanosensation.

PIEZO1

PFKM (Phosphofructokinase, Muscle): PFKM is a gene that encodes an enzyme essential for glycolysis and glucose metabolism in muscle tissue. It plays a key role in producing energy during physical activity and muscle contraction, making it vital for optimal muscle performance and function.

PFKM

RAB1A (RAB1A, Member RAS Oncogene Family): RAB1A is a gene that encodes a protein belonging to the RAB family of small GTPases, which regulate various aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a crucial role in maintaining efficient protein transport and processing within the cell.

RAB1A

HLA-DQA2 (Human Leukocyte Antigen DQ Alpha 2): HLA-DQA2 is a gene within the HLA complex that plays a central role in regulating the immune system through antigen presentation. It encodes an alpha chain that pairs with a beta chain to form the HLA-DQ molecule, which presents foreign antigens to T cells to initiate immune responses. Variations in HLA-DQA2 are associated with susceptibility to certain autoimmune diseases, emphasising its significance in immune tolerance and autoimmunity.

HLA-DQA2

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3 is a gene that regulates the production of sphingolipids, essential components of cell membranes and signalling pathways. It helps maintain lipid balance in cells and influences inflammatory responses. Variations in ORMDL3 have been linked to a higher risk of asthma and allergic diseases, emphasising its role in immune regulation and inflammation.

ORMDL3

TMC5 (Transmembrane Channel Like 5): TMC5 is a protein that belongs to the TMC family, a group believed to function as ion channels or transporters. Although its exact role remains unclear, TMC5 may contribute to sensory perception or the maintenance of cellular homeostasis. Research is ongoing to clarify its function and potential significance to health and disease.

TMC5

IL13 (Interleukin 13): IL13 is a cytokine involved in regulating immune responses, particularly in allergic inflammation and asthma. It plays a crucial role in modulating antibody production and managing inflammatory reactions, especially in allergic conditions and protection against parasitic infections.

IL13

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a crucial enzyme involved in the remethylation pathway of homocysteine metabolism. It catalyses the transfer of a methyl group from 5-methyltetrahydrofolate (5-MTHF) to homocysteine, producing methionine and tetrahydrofolate (THF). Methionine is a precursor for S-adenosylmethionine (SAM), a universal methyl donor essential for various methylation reactions in the body, including DNA methylation, neurotransmitter synthesis, and histone modification. Proper MTR activity is vital for maintaining normal homocysteine levels and supporting cellular methylation processes. Dysregulation of MTR, often due to genetic mutations or deficiencies, can affect these critical functions.

GCK (Glucokinase): GCK is a gene that encodes the enzyme glucokinase, a key regulator of glucose metabolism in the body. Glucokinase catalyses the first step of glucose processing in the liver and pancreatic beta cells. It acts as a glucose sensor, playing a vital role in detecting blood sugar levels, triggering insulin release, and maintaining overall glucose balance.

FGF10 (Fibroblast Growth Factor 10): FGF10 is a protein essential for embryonic development, particularly in the formation of limbs and lungs. It plays a crucial role in the proliferation and differentiation of cells within these tissues. Mutations in FGF10 can lead to developmental disorders such as lung aplasia.

FGF10

CATSPER2 (cation channel, sperm-associated 2): CATSPER2 is vital for sperm motility and fertility, as it forms part of the calcium channel complex in sperm required for the hyperactivated motility essential for fertilisation. Mutations in CATSPER2 can result in male infertility due to impaired sperm function. Research into CATSPER2 offers insights into reproductive health and potential targets for contraception or infertility treatment.

CATSPER2

MTAP (Methylthioadenosine Phosphorylase): MTAP is an enzyme involved in the methionine salvage pathway, recycling methylthioadenosine produced during polyamine synthesis. It plays a crucial role in nucleotide and polyamine metabolism, supporting cell growth and differentiation. Loss of MTAP is common in various cancers and is associated with poor prognosis, making it a potential therapeutic target due to its significance in metabolic pathways essential for cell survival.

MTAP

CTRC (Chymotrypsin C) is a gene that encodes an enzyme involved in protein digestion within the pancreas. This enzyme helps regulate digestive processes, and mutations in CTRC have been linked to chronic pancreatitis — a condition characterised by persistent inflammation and pancreatic damage. Understanding CTRC is important for studying pancreatic health and related disorders.

CTRC

TSPAN3 (Tetraspanin 3): TSPAN3 encodes a member of the tetraspanin protein family, which plays a role in cell adhesion, signaling, and membrane organization. Tetraspanins are involved in various cellular processes, including immune cell activation and cancer metastasis.

TSPAN3

PFKL (Phosphofructokinase, Liver Type): PFKL is an enzyme that plays a crucial role in glycolysis — the metabolic pathway that converts glucose into energy. It is vital for glucose metabolism and energy production, particularly in the liver, where it facilitates glucose utilisation and storage.

PFKL

ABCA1 (ATP-binding cassette sub-family A member 1): ABCA1 is a membrane protein essential for transporting cholesterol and phospholipids from cells to lipid-poor apolipoproteins, forming nascent high-density lipoprotein (HDL) particles. This reverse cholesterol transport process helps maintain cholesterol balance and supports healthy lipid metabolism. ABCA1 is mainly expressed in the liver and in peripheral tissues such as macrophages, where it aids in cholesterol removal, contributing to cardiovascular protection. Mutations or reduced expression of ABCA1 can disrupt lipid homeostasis and increase the risk of atherosclerosis.

ABCA1

MAT1A (Methionine Adenosyltransferase I, Alpha) is an enzyme that produces S-adenosylmethionine (SAMe), the body’s primary methyl donor for key metabolic processes. It plays a central role in methionine metabolism, influencing gene regulation, cell growth, and detoxification. Reduced MAT1A activity is linked to liver disorders such as cirrhosis and hepatocellular carcinoma.

MAT1A

SERPINA7 (Thyroxine-binding globulin, TBG): SERPINA7 is a carrier protein produced mainly in the liver that circulates in the bloodstream. It binds to and transports thyroid hormones — primarily thyroxine (T4) and triiodothyronine (T3) — ensuring their stable levels and delivery to tissues. This glycoprotein is essential for regulating the distribution of thyroid hormones, which influence metabolism, growth, and development. Changes in SERPINA7 levels or mutations in its gene can affect hormone availability and thyroid-related functions.

SERPINA7

BNIP5 (BCL2/Adenovirus E1B 19 kDa Interacting Protein 5): BNIP5 is a protein involved in regulating apoptosis and cell survival. It interacts with members of the Bcl-2 family — key proteins that control cell death and survival — and plays an important role in research on cancer development and cellular stress responses.

BNIP5

GLIS1 (GLIS Family Zinc Finger 1): GLIS1 is a transcription factor that regulates gene expression in various tissues, including the reproductive system and skin. It plays a role in reprogramming somatic cells into pluripotent stem cells, underlining its potential applications in regenerative medicine.

GLIS1

STAC (SH3 and Cysteine-Rich Domain): STAC is a protein — specifically STAC3 in humans — that plays a key role in skeletal muscle contraction. It is essential for excitation–contraction coupling, the process that links electrical signals to muscle movement. Mutations in the STAC3 gene can lead to Native American myopathy, a rare congenital condition marked by muscle weakness, skeletal abnormalities, and increased risk of malignant hyperthermia. Studying STAC3 is vital for understanding muscle physiology and related disorders.

STAC

MORC2 (Microrchidia 2): MORC2 is a gene that encodes a member of the MORC family of proteins. These proteins are involved in epigenetic regulation, DNA damage repair, and transcriptional control. MORC2 plays diverse roles that can influence multiple cellular processes.

MORC2

MTMR7 (Myotubularin Related Protein 7): MTMR7 is a member of the myotubularin family of enzymes that regulate cellular lipid levels, particularly phosphoinositides. It plays an important role in intracellular signalling and trafficking. Alterations in MTMR7 function can affect processes such as autophagy and endocytosis, and have been linked to research on neurodegenerative diseases.

MTMR7

STK32A (Serine/Threonine Kinase 32A): STK32A is a gene that encodes a serine/threonine kinase — an enzyme that modifies proteins by adding phosphate groups. Such kinases are involved in key cellular processes, including signalling, cell cycle regulation, and apoptosis. The precise functions of STK32A are still under investigation, with research exploring its role in cell regulation and potential links to diseases such as cancer.

STK32A

CERS6, also known as Ceramide Synthase 6, is an enzyme that plays a key role in the biosynthesis of ceramides—essential components of cell membranes and important signalling molecules in cellular processes. Located in the endoplasmic reticulum (ER), CERS6 catalyses the formation of ceramides by attaching fatty acyl-CoA to sphingoid bases. It is specifically involved in producing ceramide species with distinct acyl chain lengths and saturation, which affect their biophysical properties and cellular functions.

CERS6

PHYHIPL (Phytanoyl-CoA 2-Hydroxylase Interacting Protein-Like): PHYHIPL is a protein associated with the peroxisomal degradation pathway, particularly involved in the metabolism of branched-chain fatty acids and bile acid intermediates. It contributes to lipid metabolism and the maintenance of cellular lipid homeostasis. Although its exact functions are still being defined, PHYHIPL may play a role in metabolic disorders linked to defective lipid processing.

PHYHIPL

PPP2R3C (Protein Phosphatase 2 Regulatory Subunit B''Gamma): PPP2R3C is a gene that encodes a regulatory subunit of the protein phosphatase 2 (PP2A) complex. PP2A is a serine/threonine phosphatase involved in controlling cell growth and division. PPP2R3C modulates PP2A activity, affecting key signalling pathways related to cellular stress responses, DNA damage repair, and apoptosis. Its function is essential for maintaining cellular homeostasis and regulating cell cycle checkpoints.

PPP2R3C

MDM1 (MDM1 Nuclear Protein Homolog): MDM1 (MDM1 Nuclear Protein Homolog) is a gene that encodes a nuclear protein believed to aid in maintaining chromosomal integrity during cell division. It may have a role in DNA repair and the cellular response to DNA damage. Although its precise functions remain under investigation, MDM1 is of interest due to its potential involvement in cell cycle regulation.

MDM1

CNTN5 (Contactin 5): CNTN5 is a member of the contactin family, involved in the development of the nervous system, particularly in the formation of neural connections. It plays a crucial role in neuronal development and function. Mutations in CNTN5 have been linked to neurodevelopmental disorders, including autism spectrum disorders and intellectual disabilities.

CNTN5

CCK (Cholecystokinin): CCK is a gene that encodes a peptide hormone involved in digestion and appetite regulation. Cholecystokinin stimulates the release of digestive enzymes and induces gallbladder contraction. It also acts as a satiety signal in the brain, helping to control food intake.

IL18R1 (Interleukin 18 Receptor 1): IL18R1 is a protein that functions as a receptor for interleukin 18 (IL-18), a cytokine involved in inflammation and immune defence. IL18R1 plays a crucial role in the immune response by facilitating the activation of natural killer cells and specific T-cells, which are vital for combating infection and injury. Variations in the IL18R1 gene can influence susceptibility to inflammatory and autoimmune diseases, highlighting its role in regulating immune and inflammatory processes.

IL18R1

IFNA13 (Interferon Alpha 13): IFNA13 is a cytokine belonging to the interferon alpha family, which plays a crucial role in immune defence against viral infections and tumour growth. It activates the innate immune system, inducing genes that inhibit viral replication, enhance cell-mediated immunity, and promote apoptosis of infected or cancerous cells. Its functions in antiviral defence and cancer immunotherapy highlight its significance in immune regulation and anti-tumour activity.

IFNA13

OR7A17 (Olfactory Receptor, Family 7, Subfamily A, Member 17): OR7A17 is a gene that encodes a protein belonging to the olfactory receptor family, which is involved in detecting odour molecules. This large gene family plays a key role in the sense of smell and the complex signalling pathways related to olfaction.

OR7A17

RC3H1 (Ring Finger and CCCH-Type Domains 1): RC3H1, also known as Roquin, is a post-transcriptional regulator that controls the stability and translation of mRNA transcripts related to immune response and inflammation. It plays a key role in maintaining immune balance by regulating cytokine expression and other immune-related genes. Dysregulation of RC3H1 has been linked to autoimmune diseases, highlighting its potential as a target for immunotherapy.

RC3H1

KLF6, or Krüppel-Like Factor 6, is a transcription factor that belongs to the Krüppel-like family of zinc finger proteins. It plays key roles in regulating gene expression, cell proliferation, differentiation, apoptosis, and various biological processes related to development, tissue maintenance, and disease. KLF6 functions primarily as a transcriptional regulator by binding to specific DNA sequences called Krüppel-like factor binding sites, thereby influencing the transcriptional activity of target genes. Depending on the cellular environment, KLF6 can act as either a transcriptional activator or repressor.

KLF6

AXIN2 (Axin 2) is a gene that encodes a protein involved in the Wnt signalling pathway, a key regulator of cell growth, differentiation, and development. It acts as a negative regulator of this pathway, helping maintain normal cellular processes. Mutations in AXIN2 have been associated with cancers, including colorectal cancer, as well as developmental conditions such as tooth agenesis.

AXIN2

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

IL5RA

FCER1G (Fc Epsilon Receptor I Gamma): FCER1G is a key component of the high-affinity receptor for the Fc region of immunoglobulin E (IgE). It plays a vital role in allergic responses by contributing to the activation of mast cells and basophils. Variations in this gene can influence the severity and susceptibility to allergic diseases and asthma.

FCER1G

PSMA1 (Proteasome Subunit Alpha 1): PSMA1 is a protein that forms part of the proteasome, a cellular complex responsible for breaking down unwanted or damaged proteins. It is essential for protein quality control and overall cell regulation. Disruption of proteasome function, including alterations in PSMA1, has been linked to conditions such as cancer and neurodegenerative diseases.

PSMA1

PDSS1 (Prenyl (Decaprenyl) Diphosphate Synthase, Subunit 1): PDSS1 is a protein involved in the production of coenzyme Q10, a vital molecule in the mitochondrial electron transport chain. It plays an essential role in cellular energy generation and antioxidant defence. Dysfunction of PDSS1 can result in coenzyme Q10 deficiency, which may contribute to various neuromuscular and neurodegenerative disorders.

PDSS1

FOXJ2 (Forkhead Box J2): FOXJ2 is a transcription factor from the forkhead box (FOX) family — a group of proteins that regulate gene expression involved in growth, cell proliferation, and differentiation. FOXJ2 is involved in multiple biological processes, and its dysregulation can disrupt developmental pathways and contribute to certain disease conditions.

FOXJ2

CCDC141 (Coiled-Coil Domain Containing 141): CCDC141 is a gene that encodes a protein involved in the formation and function of cilia and flagella—cellular structures essential for movement, fluid flow, and signalling. By supporting proper cilia organisation, CCDC141 influences processes such as cell motility, sensory perception, and developmental signalling. Mutations in this gene have been linked to ciliopathies, a group of disorders caused by dysfunctional cilia that can affect multiple organs.

CCDC141

CLGN (Calmegin): CLGN is a protein involved in sperm–egg fusion during fertilisation. It functions in the endoplasmic reticulum of the testis and is essential for male fertility. Mutations in CLGN can impair sperm development and function, potentially leading to infertility.

CLGN

RORA (RAR-Related Orphan Receptor A): RORA is a nuclear receptor involved in regulating circadian rhythms, immune responses, and neurodevelopment. It controls the expression of genes related to these processes and has been linked to conditions such as depression, bipolar disorder, and autoimmune diseases. Its functions in both the central nervous system and immune system underline its importance in maintaining health and preventing disease.

RORA

PLAAT1 (Phospholipase A And Acyltransferase 1): PLAAT1 is an enzyme involved in lipid metabolism, specifically in the remodelling of phospholipids within cell membranes. Although its exact physiological functions are not fully understood, PLAAT1 may play a role in cell signalling and membrane dynamics, with possible associations to metabolic and inflammatory processes.

PLAAT1

NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2): NR2F2 is a transcription factor, also known as COUP-TFII, that plays a key role in the development and function of multiple organs, including the heart and vascular system. It regulates genes involved in angiogenesis (the formation of new blood vessels) and metabolic processes. Abnormal NR2F2 activity is associated with developmental disorders and certain cancers, where it can affect tumour growth and metastasis.

NR2F2

MDFIC2: MDFIC2, or MyoD Family Inhibitor Domain Containing 2, is a gene that has not been extensively studied but is thought to be involved in muscle development and differentiation. It may play a role in regulating myogenic factors, which are essential for muscle cell growth and repair. Understanding the function of MDFIC2 could provide insights into muscle development disorders or muscle regeneration processes.

MDFIC2

SEC62 (SEC62 Homolog, Preprotein Translocation Factor): SEC62 is a gene involved in the translocation of proteins into the endoplasmic reticulum (ER). It plays a role in importing proteins into the ER lumen, aiding the correct folding and processing of secretory and membrane proteins.

SEC62

HPCAL1 (Hippocalcin Like 1): HPCAL1 is a calcium-binding protein similar to hippocalcin. It is involved in neuronal activity and plasticity by participating in calcium signalling pathways within nerve cells. These pathways are essential for memory and learning processes. Dysfunctions in HPCAL1 have been linked to neurological disorders, especially those affecting cognitive function.

HPCAL1

RGS6 (Regulator of G Protein Signalling 6): RGS6 is a member of the RGS family that plays a crucial role in regulating G protein-coupled receptor (GPCR) signalling pathways. It accelerates the GTPase activity of G protein α subunits, effectively switching off GPCR signalling and acting as a key modulator of signal transduction. This regulation is essential for various physiological processes, including sensory perception, cardiovascular control, and central nervous system function. By fine-tuning GPCR signalling, RGS6 helps control cellular responses to external stimuli.

RGS6

CSMD3 (CUB and Sushi Multiple Domains 3) is a gene that encodes a protein involved in cell adhesion and signalling. It also plays a role in regulating immune responses and neuronal development. Ongoing research is focused on understanding how CSMD3 contributes to conditions such as cancer and neurodevelopmental disorders.

CSMD3

LEP (Leptin): LEP is a gene that encodes the hormone leptin, which is produced by adipose tissue and plays a key role in regulating energy balance and appetite. Leptin acts on the hypothalamus in the brain to suppress appetite and promote energy expenditure. Dysregulation of leptin or its receptor can lead to obesity and metabolic disorders, as it is essential for maintaining body weight and fat storage.

NCLN (Nicalin): NCLN is a component of the nicalin-NOMO (nodal modulator) complex, which plays a role in key cellular processes, including signalling pathways that regulate embryonic development and organ formation. Although its precise functions are still under investigation, NCLN is thought to help modulate pathways such as Nodal signalling, which is crucial for developmental patterning. Its role within this complex indicates potential involvement in developmental disorders and diseases linked to dysregulated signalling pathways.

NCLN

PHF14 (PHD Finger Protein 14): PHF14 is a gene that encodes a protein containing a PHD finger domain. This indicates a role in chromatin-mediated regulation of gene expression. PHF14 may be involved in developmental processes and cell differentiation. Dysregulation of PHF14 has been linked to developmental disorders and various cancers.

PHF14

ASPRV1 (Aspartic Peptidase, Retroviral-Like 1): ASPRV1 is a gene that encodes an aspartic peptidase enzyme. Its specific function is still under investigation, but it may be involved in proteolytic processes within cells. Ongoing research seeks to better understand its roles and potential implications.

ASPRV1

SORCS2 (Sortilin-Related VPS10 Domain Containing Receptor 2): SORCS2 is a receptor involved in neuronal development and signalling. As a member of the VPS10 domain-containing receptor family, it plays important roles in neurotrophic signalling and neural plasticity. Dysregulation of SORCS2 has been associated with neurological disorders such as Alzheimer’s disease and schizophrenia.

SORCS2

MSRA (Methionine Sulfoxide Reductase A): MSRA is an enzyme that helps protect cells from oxidative stress by repairing oxidatively damaged proteins. It reduces methionine sulfoxide back to methionine, supporting protein function and overall cellular health. Its antioxidant activity is important for healthy ageing and may play a role in preventing diseases linked to oxidative damage, including neurodegenerative disorders.

MSRA

ZNF516 (Zinc Finger Protein 516): ZNF516 is a KRAB zinc finger protein, indicating a role in DNA binding and transcriptional regulation. It is involved in the regulation of cardiac genes and has been studied in relation to cardiovascular diseases. Dysregulation of ZNF516 may affect heart development and function, with potential implications for heart disease and heart failure.

CPPED1

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