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Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.

<p>Do you often find yourself feeling tired and drained, even after a full night’s sleep? Fatigue can take a toll on your daily life and overall well-being. But what if you could uncover the genetic factors contributing to your low energy levels? GetTested’s DNA Fatigue is a comprehensive analysis of 240 carefully selected genes that can shed light on the underlying causes of your fatigue.</p>

DNA Fatigue Test

TEF (Thyrotrophic Embryonic Factor): TEF is a member of the PAR bZIP (proline and acidic amino acid-rich basic leucine zipper) transcription factor family. TEF plays a key role in regulating the circadian rhythm and controlling the expression of clock-dependent genes. It is essential for maintaining daily physiological cycles, including metabolism and hormone secretion. Dysregulation of TEF can affect circadian rhythm-related disorders and metabolic health, highlighting its importance in synchronising biological processes with the environmental light-dark cycle.

ITIH1 (Inter-Alpha-Trypsin Inhibitor Heavy Chain 1): ITIH1 is a protein that reflects the body’s mechanisms for extracellular matrix stabilisation and inflammation regulation. It plays an important role in tissue remodelling and repair, and dysregulation of ITIH1 has been associated with various inflammatory conditions and may contribute to cancer development.

ITIH1

LRTM1 (Leucine Rich Repeats And Transmembrane Domains 1): LRTM1 is a gene involved in neural development and synaptic function. It plays a key role in neuronal communication and is potentially linked to neurodegenerative diseases, making it important for understanding brain health and neurological disorders.

LRTM1

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a crucial role in the development and function of the nervous system. It is involved in the formation of neural circuits and synaptic connections. Variations or mutations in CNTN2 have been linked to neurodevelopmental disorders and may affect neurological processes such as learning and memory.

CNTN2

ADO (Adenosine Deaminase, RNA-Specific): ADO is a gene that encodes an enzyme responsible for the RNA-specific deamination of adenosine. This enzyme catalyses the conversion of adenosine to inosine in RNA molecules, affecting RNA stability, function, and regulation. ADO plays a crucial role in RNA editing, contributing to the diversity and functionality of RNA molecules.

ITGA4 (Integrin Subunit Alpha 4): ITGA4 is a cell adhesion molecule that plays a key role in leukocyte migration and immune system function. It is essential for the immune system to effectively reach and respond to sites of inflammation. Dysregulation of ITGA4 can contribute to autoimmune disorders and affect the efficiency of immune responses.

ITGA4

PRSS3 (Protease, Serine 3): PRSS3 is an enzyme, also known as mesotrypsin, that indicates the activity of a serine protease involved in protein digestion and the degradation of extracellular matrix components. It plays a role in pancreatic function and has been studied in cancer, as abnormal PRSS3 expression or activity may contribute to tumour invasion and metastasis.

PRSS3

HCN4 (Hyperpolarisation Activated Cyclic Nucleotide Gated Potassium Channel 4): HCN4 is an essential protein that forms part of the cardiac pacemaker channels responsible for regulating heart rhythm. It plays a key role in generating and controlling the pacemaker current, which affects heart rate and cardiac output. Mutations in HCN4 are associated with various cardiac arrhythmias, such as bradycardia and heart block, making it an important gene for understanding heart function and related disorders.

HCN4

H3C12 (Histone Cluster 3, H3c12) is a gene that encodes a histone protein, which is essential for DNA packaging within chromosomes. Histones play a key role in regulating gene expression and maintaining chromosome structure. Changes in histone genes such as H3C12 can affect cell function and have been linked to the development of various cancers.

H3C12

OR2M3 (Olfactory Receptor, Family 2, Subfamily M, Member 3): OR2M3 is a gene that belongs to the large olfactory receptor family, which is responsible for the sense of smell. These receptors detect volatile odour molecules and are highly diverse, enabling the perception of many different scents. OR2M3 is expressed in the olfactory epithelium of the nose and plays a key role in odour detection and signal transmission to the brain. Research on OR2M3 and related receptors helps deepen our understanding of smell and has potential applications in flavour science and sensory biology.

OR2M3

LSR (Lipolysis-Stimulated Lipoprotein Receptor): LSR is a gene that encodes a receptor protein involved in the uptake of lipoproteins, including chylomicrons and very-low-density lipoproteins (VLDL). It plays a crucial role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

NEGR1 (Neuronal Growth Regulator 1): NEGR1 is a cell adhesion molecule predominantly expressed in the central nervous system. It plays a crucial role in neuronal growth, differentiation, and synaptic plasticity, supporting the formation and maintenance of neuronal networks. NEGR1 facilitates cell-to-cell interactions essential for communication between neurons and the structure of neural tissue. Its involvement in neurodevelopment connects it to brain function, and dysregulation or mutations in NEGR1 have been linked to neurodevelopmental disorders and other conditions.

NEGR1

BHLHE40 (Basic Helix-Loop-Helix Family Member E40): BHLHE40 is a gene that encodes a transcription factor involved in regulating the circadian rhythm. It plays a key role in controlling the sleep-wake cycle and the expression of circadian clock genes. Dysregulation of BHLHE40 can affect circadian rhythms and sleep patterns.

BHLHE40

PRDM16 (PR Domain Containing 16): PRDM16 is a transcription factor that plays a key role in regulating the differentiation of brown adipocytes and activating thermogenesis. It is essential for controlling energy expenditure and metabolic health. As a central player in managing the body’s energy balance, PRDM16 holds significant potential in advancing our understanding of metabolism and addressing obesity.

PRDM16

NFIA (Nuclear Factor I A) is a transcription factor that plays key roles in regulating gene expression, cellular differentiation, and development. It is primarily located in the nucleus and belongs to the Nuclear Factor I (NFI) family, a group of conserved DNA-binding proteins involved in controlling transcription. NFIA functions by binding to specific DNA sequences called NFIA recognition elements in gene promoters, influencing gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NFIA

CD44 (Cluster of Differentiation 44): CD44 is a cell surface glycoprotein that plays a key role in cell adhesion and migration. It is involved in several important cellular processes, including tissue regeneration, lymphocyte activation, and cancer metastasis. As a primary receptor for hyaluronic acid, CD44 also has significant roles in inflammation and tissue repair.

CD44

GFI1B (Growth Factor Independence 1B): GFI1B is a transcriptional repressor that plays a crucial role in the development and differentiation of red blood cells and platelets. It regulates genes involved in the cell cycle and apoptosis, helping to maintain a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders such as anaemia and thrombocytopenia, and it also contributes to the development of leukaemia. Its function is vital for maintaining haematopoietic cell balance and underscores the complexity of blood cell production.

GFI1B

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor expressed on the surface of macrophages that plays a role in the immune system’s response to pathogens and particulate matter. It is involved in recognising and clearing bacteria and environmental particles, contributing to innate immunity and the regulation of inflammation.

MARCO

PLPPR4 (Phospholipid Phosphatase-Related Protein 4): PLPPR4 is a gene involved in phospholipid metabolism and signalling pathways. Phospholipids are key components of cell membranes and participate in various cellular functions such as signalling and membrane dynamics. PLPPR4 may help regulate specific phospholipid levels, potentially affecting cell function and membrane properties.

PLPPR4

GP2 (Glycoprotein 2): GP2 is a gene that encodes a membrane-bound protein primarily located in the pancreas and involved in immune responses within the gastrointestinal tract. It functions in binding and aggregating bacteria, contributing to the protection of the gut from microbial invasion. Variations in GP2 are researched for their possible associations with pancreatic disorders and inflammatory bowel diseases.

PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can lead to congenital spinal and skeletal malformations.

PAX1

IRF8 (Interferon Regulatory Factor 8) is a gene that encodes a transcription factor vital for the development and function of immune cells, particularly dendritic cells and macrophages. It helps regulate genes involved in immune responses and antigen presentation. Alterations in IRF8 can impact immune cell differentiation and overall immune function.

IRF8

NQO1 (NAD(P)H Quinone Dehydrogenase 1): NQO1 is an enzyme that helps protect cells from oxidative stress by converting quinones into less reactive hydroquinones. This process reduces the formation of harmful reactive oxygen species and supports cellular redox balance. Variations in the NQO1 gene have been linked to cancer risk and increased sensitivity to certain toxins, emphasising its role in detoxification and cellular defence.

NQO1

BET1L (Bet1 Golgi Vesicular Membrane Trafficking Protein-Like): BET1L is a protein that plays a crucial role in the vesicular transport system, specifically managing the trafficking between the endoplasmic reticulum and the Golgi apparatus. This process is essential for the correct secretion and processing of proteins, supporting important cellular functions such as cell signalling, metabolism, and structural maintenance. BET1L’s function in this transport pathway is vital for normal cellular operations and maintaining cellular homeostasis.

BET1L

CALM1 (Calmodulin 1): CALM1 encodes calmodulin, a calcium-binding protein that plays a central role in calcium signalling. Calmodulin interacts with various target proteins, regulating their activity based on changes in intracellular calcium levels. CALM1 is essential for many cellular processes, including muscle contraction, neurotransmitter release, and cell growth.

CALM1

CD40 (Cluster of Differentiation 40): CD40 is a cell surface receptor protein that plays a central role in the immune system. It is primarily expressed on B cells and antigen-presenting cells. Activation of CD40 is essential for B cell maturation, antibody production, and the development of adaptive immunity. Mutations in CD40 or its ligand CD40L can lead to immunodeficiency disorders.

CD40

PRKAG2 (Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2): PRKAG2 encodes a regulatory subunit of AMP-activated protein kinase (AMPK), a key enzyme involved in regulating cellular energy. It plays a role in sensing the cell’s energy status and activating pathways that help to restore energy balance.

PRKAG2

BRSK2 (BR Serine/Threonine Kinase 2): BRSK2 is a member of the AMP-activated protein kinase family, involved in neuronal development and polarization. It plays a key role in synaptic plasticity and the maturation of neurons. Changes or mutations in BRSK2 have been linked to neurological disorders and may contribute to neurodevelopmental diseases.

BRSK2

SUOX (Sulfite Oxidase): SUOX codes for an enzyme essential in the metabolism of sulphur-containing amino acids. It catalyses the final step in the breakdown of cysteine and methionine by converting sulphite into sulphate, which is then excreted in the urine. Proper SUOX activity prevents the accumulation of sulphite, which can cause neurological damage and physical abnormalities known as sulphite oxidase deficiency, highlighting the enzyme’s vital role in amino acid metabolism and the prevention of neurotoxicity.

SUOX

OR2B6 is a gene that encodes a protein belonging to the olfactory receptor (OR) family, which is involved in detecting and recognising odour molecules. These receptors are located on the surface of olfactory sensory neurones in the nasal cavity and play a key role in initiating olfactory signal transduction. OR2B6 specifically binds to certain odour molecules, triggering signals that are ultimately transmitted to the brain for odour perception.

OR2B6

CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are linked to catecholaminergic polymorphic ventricular tachycardia, a condition characterised by irregular heartbeats triggered by physical activity or stress.

CASQ2

CD28 (CD28 Molecule): CD28 is a co-stimulatory receptor on T cells that is essential for their full activation and survival. It plays a crucial role in the immune response, including the development of T cell memory. CD28 signalling is also a key target for immunotherapeutic drugs, particularly in the treatment of cancer and autoimmune diseases.

CD28

PRTFDC1 (Phosphoribosyl Transferase Domain Containing 1): PRTFDC1 is an enzyme involved in the purine salvage pathway, which recycles purines from degraded DNA and RNA to synthesise new nucleotides. This role in nucleotide metabolism indicates it is important for cell proliferation and DNA repair. Alterations in this pathway can affect cellular energy balance and genomic stability, with potential implications for metabolic health and the DNA damage response.

PRTFDC1

SAMM50 (Sorting and Assembly Machinery Component 50): SAMM50 is a gene that plays a key role in mitochondrial biology. It is an essential part of the mitochondrial protein import and assembly machinery, ensuring proper localisation and function of proteins within the mitochondria. By supporting these processes, SAMM50 is crucial for cellular energy production and overall mitochondrial function.

SAMM50

PDCD6IP (Programmed Cell Death 6 Interacting Protein): PDCD6IP is a protein that reflects the balance and regulation of key cellular processes. Also known as ALIX, it is involved in endocytosis, membrane repair, and cell death pathways. PDCD6IP plays a critical role in multivesicular body formation and the budding of enveloped viruses, such as HIV. Dysfunctions in PDCD6IP are associated with neurodegenerative diseases and cancer, highlighting its importance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A): CDKN2A is a tumour suppressor gene that produces two proteins, p16INK4A and p14ARF, which are involved in regulating the cell cycle and preventing tumour development. Mutations in CDKN2A are linked to a higher risk of several cancers, including melanoma and pancreatic cancer.

CDKN2A

MACF1 (Microtubule-Actin Crosslinking Factor 1): MACF1 is a gene that encodes a cytoskeletal linker protein involved in stabilising and connecting microtubules and actin filaments. It plays an important role in cell motility, neuronal development, and cellular signalling. Dysfunction in MACF1 is associated with developmental disorders and may contribute to cancer metastasis.

MACF1

UTP20 (UTP20, Small Subunit Processome Component): UTP20 is a protein involved in the processing and assembly of 18S rRNA, a vital component of the small ribosomal subunit. It plays a key role in ribosome biogenesis, which is essential for protein synthesis. Dysfunction in UTP20 can affect cell growth and proliferation, with potential links to developmental disorders and cancer.

UTP20

CCR7 (C-C Motif Chemokine Receptor 7): CCR7 is a key receptor in the immune system that directs the migration of T cells and dendritic cells to lymphoid tissues. Its interaction with the ligands CCL19 and CCL21 is vital for coordinating adaptive immune responses and maintaining immune surveillance. Dysregulation of CCR7 has been associated with autoimmune diseases and cancers, making it an important target in immunotherapy and cancer treatment research.

CCR7

TCF7L2 (Transcription Factor 7-Like 2): TCF7L2 is a key regulator in the Wnt signalling pathway, which plays an important role in cell growth and development. Variants in this gene have been strongly linked to an increased risk of type 2 diabetes, likely through their impact on insulin secretion and glucose metabolism. Understanding TCF7L2 is essential for uncovering the genetic basis of diabetes and advancing potential treatments.

TCF7L2

ITGB8 (Integrin Subunit Beta 8): ITGB8 is a protein involved in cell adhesion and signal transduction, mediating interactions between cells and the extracellular matrix. It plays a key role in tissue remodelling, angiogenesis, and brain development by facilitating the activation of transforming growth factor-beta (TGF-beta), a cytokine that regulates cell proliferation, differentiation, and other critical functions. Dysregulation of ITGB8 has been linked to cancer progression, as well as various vascular and neurological disorders, highlighting its essential role in cellular communication and disease.

ITGB8

FBXO24 (F-Box Protein 24): FBXO24 is a gene that encodes a protein belonging to the F-box family, which is involved in protein degradation via the ubiquitin-proteasome system. It plays a role in cell cycle regulation and protein turnover, although its specific physiological functions and associations with diseases are still under investigation.

FBXO24

PLTP (Phospholipid Transfer Protein): PLTP is a protein that plays a key role in lipid metabolism and transport in the body. It facilitates the transfer of phospholipids between different lipoprotein particles, helping to regulate their composition and function. PLTP is important for maintaining plasma lipoprotein balance, influencing the size, composition, and functionality of HDL and LDL particles, and supporting processes such as reverse cholesterol transport.

PLTP

PLEKHM1 (Pleckstrin Homology Domain-Containing Family M Member 1): PLEKHM1 is a protein involved in autophagy and lysosome function. It plays a key role in the fusion of autophagosomes with lysosomes, an important step in the autophagic process. Mutations in PLEKHM1 have been linked to osteopetrosis, a rare bone disorder.

PLEKHM1

UBXN2A (UBX Domain Protein 2A): UBXN2A is involved in the ubiquitin-proteasome system, which regulates protein degradation and quality control in cells. It may play a role in responding to cellular stress and regulating protein turnover, processes that are essential for maintaining cellular health and preventing disease.

UBXN2A

ALPL (Alkaline Phosphatase, Liver/Bone/Kidney): ALPL encodes an enzyme involved in dephosphorylation processes that are essential for bone mineralisation. This enzyme plays a key role in bone development, liver function, and overall mineral metabolism. Mutations in ALPL can lead to hypophosphatasia, a disorder that affects bone formation.

ALPL

PHACTR4 (Phosphatase and Actin Regulator 4): PHACTR4 is a multifunctional protein that plays a key role in regulating cellular signalling pathways and cytoskeletal dynamics. It functions through interactions with protein phosphatase 1 (PP1) and actin filaments. PHACTR4 is involved in important cellular processes such as cell cycle progression, cell migration, and neuronal development. By modulating PP1 activity, it helps regulate various cellular functions including gene expression and metabolism. Additionally, PHACTR4 has been linked to cardiovascular diseases, especially coronary artery disease, where it impacts endothelial function and vascular remodelling.

PHACTR4

CCDC170 (Coiled-Coil Domain Containing 170): CCDC170 is a gene with a function that is not yet fully understood, but it has been associated with breast cancer, particularly oestrogen receptor-positive breast cancer. It may play a role in cellular structure and organisation.

CCDC170

NRDE2 (NRDE-2, Necessary For RNA Interference, Domain Containing): NRDE2 is a gene believed to be involved in RNA interference, a process that regulates gene expression. It may play a role in post-transcriptional gene regulation, influencing various cellular functions. Although less well characterised, NRDE2 is thought to contribute to important cellular processes.

NRDE2

ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor involved in the body’s regulation of chemokine activity. Formerly referred to as DARC (Duffy Antigen Receptor for Chemokines), ACKR1 functions as a decoy receptor, binding chemokines without initiating intracellular signalling. By capturing chemokines, it helps regulate immune responses and control inflammation, thereby protecting tissues from excessive damage. Variations in ACKR1 are associated with differences in susceptibility to infections and the severity of inflammatory diseases.

ACKR1

MLXIPL (MLX-Interacting Protein-Like): MLXIPL is a gene that encodes a protein involved in glucose metabolism and the regulation of gene expression. It plays a role in maintaining glucose homeostasis and lipid metabolism. Mutations in MLXIPL may affect carbohydrate metabolism and contribute to related disorders.

MLXIPL

RHBDD3 (Rhomboid 5 Homolog 3): RHBDD3 is a gene that encodes a protein belonging to the rhomboid family, which is involved in cellular processes such as signal transduction and protein trafficking. While its specific functions are still being investigated, RHBDD3 may play a role in cell signalling and cancer biology.

RHBDD3

STIM1 (Stromal Interaction Molecule 1): STIM1 is a protein that serves as a key regulator of calcium (Ca²⁺) entry into cells. It plays a vital role in calcium signalling and in maintaining cellular calcium balance. STIM1 is essential for processes such as muscle contraction, gene expression, and cell growth, and mutations in STIM1 are associated with immune system dysfunction and muscle-related disorders.

STIM1

PRSS37 (Protease, Serine 37): PRSS37 is a gene that encodes a serine protease enzyme involved in reproductive physiology. While its exact function remains under investigation, it is believed to play a key role in sperm maturation and male fertility. Mutations in PRSS37 have been associated with male infertility, emphasising its significance in reproductive health research.

PRSS37

KIT (also known as CD117 antigen): KIT is a gene that encodes a protein functioning as a receptor tyrosine kinase, essential for cell growth, differentiation, and survival. It plays a crucial role in the development and function of various cell types, including melanocytes, germ cells, and haematopoietic cells. Understanding KIT signalling pathways may offer insights into targeted treatments for cancers and other diseases involving abnormal KIT activity.

RAPGEF6 (Rap Guanine Nucleotide Exchange Factor 6): RAPGEF6 is a protein that plays a crucial role in signal transduction pathways, regulating cell adhesion, migration, and growth. It acts as a guanine nucleotide exchange factor for Rap proteins, controlling their activity in response to extracellular signals. Dysregulation of RAPGEF6 has been associated with cancer progression and metastasis, highlighting its significance in cellular signalling and the regulation of cell dynamics.

RAPGEF6

PIP5KL1 (Phosphatidylinositol-4-Phosphate 5-Kinase-Like 1): PIP5KL1 is a gene that encodes an enzyme involved in phosphoinositide metabolism. This enzyme catalyses the conversion of phosphatidylinositol 4-phosphate (PI4P) to phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), a critical signalling molecule that regulates cellular processes such as membrane trafficking and cytoskeletal organisation.

PIP5KL1

UPP1 (Uridine Phosphorylase 1): UPP1 is an enzyme involved in the pyrimidine salvage pathway and converts uridine into uracil and ribose-1-phosphate. It plays a crucial role in nucleotide metabolism and supports the synthesis of DNA and RNA as well as other cellular processes. Its activity is particularly important during chemotherapy, as it influences the activation and effectiveness of certain anticancer drugs.

UPP1

S1PR4 (Sphingosine-1-Phosphate Receptor 4): S1PR4 is a G protein-coupled receptor for the lipid signalling molecule sphingosine-1-phosphate (S1P). It is primarily expressed in haematopoietic cells and plays a key role in regulating immune cell migration, inflammation, angiogenesis, and endothelial barrier integrity. Alterations in S1PR4 signalling can impact immune responses and contribute to inflammatory and immune-related disorders.

S1PR4

PRG4 (Proteoglycan 4): PRG4 is a protein, also known as lubricin, that plays a crucial role in joint health by maintaining lubrication and cartilage integrity. It helps reduce friction in joints and protects cartilage surfaces from wear and damage. Mutations or deficiencies in PRG4 can contribute to joint disorders such as camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome and are associated with the development of osteoarthritis.

PRG4

GPR158 (G Protein-Coupled Receptor 158): GPR158 is a member of the G protein-coupled receptor (GPCR) family and plays a role in various physiological processes, including neuronal development and the regulation of mood and behaviour. It has been associated with mental health conditions such as depression and anxiety, highlighting its significance in brain function and emotional regulation.

GPR158

JCAD (Junctional Cadherin 5 Associated): JCAD is a protein that plays a crucial role in cell adhesion and vascular development. It is essential for endothelial cell function and the maintenance of vascular integrity. Changes in JCAD have been linked to cardiovascular diseases and may also affect tumour angiogenesis, emphasising its importance in both cardiovascular research and oncology.

JCAD

MDFIC (MyoD Family Inhibitor Domain Containing): MDFIC is a gene that encodes a protein involved in regulating gene expression, particularly in muscle development. It inhibits the MyoD family of transcription factors, which are essential for muscle differentiation, and its dysregulation may impact muscle growth and repair.

MDFIC

MMP15 (Matrix Metallopeptidase 15): MMP15 is a gene that encodes an enzyme belonging to the matrix metalloproteinase family, involved in the degradation and remodelling of the extracellular matrix (ECM). This enzyme plays a role in physiological processes such as wound healing, angiogenesis, and embryonic development by regulating ECM composition. Proper MMP15 activity is essential for tissue repair and remodelling, while its dysregulation may contribute to conditions like cancer progression, fibrosis, and inflammatory diseases.

MMP15

RRAS2 (RAS Related 2): RRAS2 is a member of the RAS gene family, involved in regulating cell growth and differentiation. It plays a key role in signal transduction pathways and is important for various cellular processes, including cell adhesion and migration.

RRAS2

PSMC1 (Proteasome 26S Subunit, ATPase 1): PSMC1 is a gene that encodes a protein component of the 26S proteasome, which is responsible for degrading ubiquitinated proteins. It plays a key role in maintaining protein homeostasis within cells by removing damaged or misfolded proteins and contributes to the regulation of cellular processes such as the cell cycle and stress responses.

PSMC1

RASGRF2 (RAS Protein-Specific Guanine Nucleotide-Releasing Factor 2): RASGRF2 is a gene that encodes a protein functioning as a guanine nucleotide exchange factor to activate RAS proteins, playing a crucial role in signal transduction. It is involved in synaptic plasticity and memory formation in the brain. Dysregulation of RASGRF2 may affect cognitive functions and contribute to the development of certain types of cancer.

RASGRF2

MEIS1 (Meis Homeobox 1): MEIS1 is a transcription factor that plays a crucial role in early embryonic development and organ formation. It is involved in processes such as limb development and haematopoiesis. MEIS1 has also been associated with restless legs syndrome (RLS) and linked to various neurological and developmental disorders.

MEIS1

TENM4 (Teneurin Transmembrane Protein 4): TENM4 is a member of the teneurin family, involved in neuronal development and function. It plays a key role in cell–cell adhesion and communication within the nervous system and has been linked to developmental processes and neurological disorders.

TENM4

MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5): MAP2K5 is an enzyme that is part of the mitogen-activated protein kinase (MAPK) signalling pathway. It plays a key role in cellular responses to growth factors, stress, and cytokines. MAP2K5 is involved in processes such as cell growth, differentiation, and apoptosis, and its dysregulation can contribute to cancer and other diseases.

MAP2K5

TBKBP1 (TANK-Binding Kinase 1 Binding Protein 1): TBKBP1 is a scaffold protein that plays a central role in regulating innate immunity and inflammatory responses. Also known as SINTBAD, it interacts with the kinases TBK1 and IKKε, contributing to antiviral defence and the production of type I interferons. TBKBP1’s involvement in modulating immune signalling pathways highlights its significance in immune function and its potential as a therapeutic target in inflammatory and autoimmune conditions.

TBKBP1

TTC28 is a gene that encodes a protein containing tetratricopeptide repeat (TPR) domains, which facilitate protein-protein interactions. While its specific functions are not fully characterised, TTC28 may play a role in regulating transcription, the cell cycle, and protein transport. Ongoing research is investigating its potential involvement in cellular pathways and disease processes.

TTC28

LRRC3B (Leucine Rich Repeat Containing 3B): LRRC3B is a gene involved in cell adhesion and communication. It plays a key role in maintaining the integrity of cell-to-cell interactions and signalling, and is recognised for its potential tumour suppressor activity, particularly in gastric cancer.

LRRC3B

TBC1D8B (TBC1 Domain Family Member 8B): TBC1D8B is a member of the TBC1 domain family, recognised for their role in intracellular trafficking and signalling. This gene is involved in regulating membrane trafficking and plays a part in cellular transport processes. Studying TBC1D8B can provide insights into cellular homeostasis and diseases associated with intracellular transport dysfunction.

TBC1D8B

TNFSF18 (TNF Superfamily Member 18): TNFSF18 is a molecule that reflects the regulation of immune responses in the body. Also known as GITR ligand, it binds to GITR on T cells and regulatory T cells, promoting effector T cell activity while suppressing regulatory T cell function. This dual role makes TNFSF18 a key target in cancer immunotherapy and autoimmune disease treatment.

TNFSF18

TNFRSF1A (Tumour Necrosis Factor Receptor Superfamily Member 1A): TNFRSF1A is a gene that encodes a receptor in the TNF receptor superfamily, which plays a key role in mediating cellular responses to tumour necrosis factor-alpha (TNF-α). This receptor is involved in regulating inflammation, immune responses, apoptosis, and cell proliferation. By binding TNF-α, TNFRSF1A can trigger signalling pathways that influence cell survival, death, and inflammatory processes, highlighting its importance in immune system regulation and disease mechanisms.

TNFRSF1A

TNKS (Tankyrase): TNKS is a protein-coding gene that reflects the activity of a poly(ADP-ribose) polymerase involved in several critical cellular processes, including the regulation of telomere length, Wnt/β-catenin signalling, and DNA repair. It plays a key role in cell proliferation and survival and has been studied for its potential involvement in cancer therapy due to its influence on tumour growth.

TNKS

PPP1R3B (Protein Phosphatase 1 Regulatory Subunit 3B): PPP1R3B is a protein that regulates the activity of protein phosphatase 1 (PP1), an enzyme involved in glycogen metabolism. It plays a key role in controlling glycogen storage in the liver and contributes to maintaining glucose homeostasis, with implications for metabolic health and disorders.

PPP1R3B

SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene that encodes a protein involved in lipid metabolism and mitochondrial function. It contributes to the synthesis of cardiolipin, a specialised phospholipid critical for mitochondrial membrane integrity and activity. Mutations in SERAC1 can impair cardiolipin production, potentially leading to mitochondrial dysfunction and related disorders.

SERAC1

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, playing a crucial role in regulating energy balance, including appetite and metabolism. Proper LEPR function is vital for the body to respond to leptin signals, while mutations in LEPR can lead to leptin resistance, a condition commonly linked to obesity.

LEPR

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2): PAPSS2 is a gene that encodes an enzyme essential for the production of PAPS (3'-phosphoadenosine 5'-phosphosulfate), a key sulphate donor in various sulphation reactions. It plays an important role in the metabolism of hormones, medications, and other molecules. Mutations in PAPSS2 can affect skeletal development and lead to disorders such as spondyloepimetaphyseal dysplasia.

PAPSS2

LPIN2 (Lipin 2): LPIN2 is a protein that plays a key role in lipid metabolism and energy production, particularly in the conversion of phosphatidic acid to diacylglycerol, an essential step in triglyceride and phospholipid synthesis. It also contributes to the regulation of gene expression linked to lipid metabolism and inflammation. Mutations in LPIN2 are associated with Majeed syndrome, which is characterised by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anaemia, underscoring its importance in both metabolic and immune processes.

LPIN2

NFATC2 (Nuclear Factor Of Activated T-Cells 2): NFATC2 is a transcription factor that plays a crucial role in regulating immune responses. It is activated in T cells by signals that increase intracellular calcium, enabling it to translocate to the nucleus and influence genes involved in T cell activation and differentiation. NFATC2 is essential for proper immune system development, and its dysregulation has been associated with autoimmune diseases and immunodeficiency.

NFATC2

LYZ (Lysozyme): Lysozyme (LYZ) is an enzyme that plays a crucial role in the innate immune system by breaking down the peptidoglycan layer of bacterial cell walls, resulting in bacterial lysis. It is plentiful in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. In addition to its antibacterial properties, LYZ also contributes to the modulation of inflammation and holds potential therapeutic uses in the treatment of infections and inflammatory conditions.

PRKCE (Protein Kinase C Epsilon): PRKCE is a gene that encodes an enzyme belonging to the protein kinase C (PKC) family. This isoform plays key roles in cellular processes such as cell proliferation, differentiation, apoptosis, and signal transduction. Predominantly located in the cytoplasm, PRKCE regulates these processes by phosphorylating target proteins and mediating the transmission of extracellular signals to intracellular pathways.

PRKCE

TLN2 (Talin 2): TLN2 is a gene that encodes the talin 2 protein, which is involved in integrin-mediated signalling and plays a key role in cell adhesion, migration, and signalling. It contributes to the formation and stabilisation of integrin-based adhesions and may influence important cellular processes, including immune responses and cancer progression.

TLN2

LGALS14 (Galectin 14): LGALS14 is a member of the galectin family, a group of proteins that bind beta-galactoside sugars and help regulate cell-cell and cell-matrix interactions. Galectin 14 is primarily expressed in the placenta and contributes to immune response regulation and foetal-maternal tolerance. Its proper expression and function are essential for pregnancy success, and abnormalities in LGALS14 have been linked to pregnancy complications, including pre-eclampsia and intrauterine growth restriction, emphasising its importance in reproductive health.

LGALS14

LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose in milk. Variants in this gene can affect the body’s ability to break down lactose, potentially leading to lactose intolerance and related gastrointestinal symptoms.

NNMT (Nicotinamide N-Methyltransferase): NNMT is an enzyme that methylates nicotinamide (vitamin B3) and plays a crucial role in regulating cellular metabolism and energy balance. Its activity has been linked to obesity, metabolic disorders, and cancer, making NNMT an important target for therapeutic interventions.

NNMT

CDKL2 (Cyclin-Dependent Kinase-Like 2): CDKL2 is a gene that encodes a protein involved in neuronal development and function. It belongs to the cyclin-dependent kinase family and is thought to participate in signal transduction and cell cycle regulation. Its activity in neurons suggests a potential role in neurodevelopmental processes and neurological disorders.

CDKL2

LRAT (Lecithin Retinol Acyltransferase): LRAT is an enzyme that plays a crucial role in vitamin A metabolism by catalysing the conversion of all-trans-retinol into all-trans-retinyl esters, the storage form of vitamin A. This process is essential for vision, immune function, and cellular differentiation. Deficiencies or mutations in LRAT can result in retinal disorders and weakened immune responses, emphasising its importance in maintaining vitamin A balance and overall health.

LRAT

RHOBTB2 (Rho-related BTB domain-containing protein 2): RHOBTB2 is a gene that encodes a protein belonging to the Rho family of small GTPases, which are involved in regulating cytoskeletal dynamics, cell migration, and cell cycle progression. The additional BTB domain suggests roles in protein-protein interactions and regulatory functions beyond classical Rho signalling. RHOBTB2 may influence cell proliferation, apoptosis, intracellular trafficking, mitochondrial function, and responses to oxidative stress.

RHOBTB2

NELL1 (NEL Like 1): is a protein involved in bone and cartilage growth and regeneration. It plays a key role in skeletal development and has been linked to osteochondral diseases and bone healing. Research on NELL1 is important for understanding skeletal biology and for developing therapies for bone-related disorders and injuries.

NELL1

SEC31B (SEC31 Homolog B, COPII Coat Complex Component): SEC31B is a protein that forms a crucial part of the COPII complex, which enables the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. It is vital for correct protein secretion and the preservation of organelle integrity. Mutations in SEC31B can disrupt protein transport and lead to ER stress-related conditions.

SEC31B

PRKG1 (Protein Kinase, cGMP-Dependent, Type I): PRKG1 is a gene that encodes a serine/threonine-specific protein kinase, serving as a key effector in cyclic guanosine monophosphate (cGMP) signalling. It plays an important role in regulating vascular smooth muscle tone, platelet function, and cardiac contractility, thereby contributing to cardiovascular homeostasis. By phosphorylating target proteins, PRKG1 influences processes such as smooth muscle relaxation, protection against myocardial damage, and inhibition of platelet aggregation, with its activity linked to cardiovascular health and disease.

PRKG1

MTX1 (Metaxin 1): MTX1 is a gene that encodes a protein involved in mitochondrial transport and organisation. This protein helps maintain proper mitochondrial positioning and function, which is essential for energy production and overall cellular processes.

MTX1

PPP1CB (Protein Phosphatase 1 Catalytic Subunit Beta): PPP1CB is a gene that encodes a catalytic subunit of protein phosphatase 1 — an enzyme essential for regulating cellular processes through dephosphorylation. It plays crucial roles in muscle contraction, glycogen metabolism, and cell division. Dysregulation of PPP1CB activity has been associated with various diseases, including heart conditions and certain cancers.

PPP1CB

MANBA (Mannosidase Beta): MANBA is a gene that encodes a lysosomal enzyme involved in the breakdown of N-linked glycoproteins. It catalyses the hydrolysis of beta-linked mannose residues, playing a key role in glycoprotein degradation. Deficiencies in MANBA activity can lead to lysosomal storage disorders, resulting in the accumulation of undegraded glycoproteins and impairing cellular function.

MANBA

LRRN1 (Leucine-Rich Repeat Neuronal 1): LRRN1 is a gene that reflects its role in neural development. It encodes a protein belonging to the leucine-rich repeat family, which is important for protein-protein interactions and the formation and maintenance of neural connections. LRRN1 is significant for understanding neural development and may be implicated in neurodevelopmental disorders.

LRRN1

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 influences the variety of proteins that can be produced from a single gene. Alterations in RBM17 may have implications in diseases such as cancer, where disrupted splicing can affect cell growth and survival.

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