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

POCD5

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

PSAP

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

TMEM51

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

ANKK1

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

RALGDS

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

RADX

RRAS2 (RAS Related 2): RRAS2 is a member of the RAS gene family, involved in regulating cell growth and differentiation. It plays a crucial 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

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

TBX3

MMP15 (Matrix Metallopeptidase 15): MMP15, a member of the matrix metalloproteinase family, plays a critical role in the breakdown and remodeling of the extracellular matrix (ECM). This enzyme is involved in various physiological processes, including wound healing, angiogenesis, and embryonic development, by regulating the composition of the ECM. The activity of MMP15 is essential for tissue repair and remodeling, although its dysregulation can result in pathological conditions such as cancer invasion and metastasis, fibrosis, and inflammatory diseases. The precise control of MMP15 activity highlights its importance in maintaining tissue integrity and its potential as a therapeutic target in disorders related to the ECM.

MMP15

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

TENM4

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

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

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

TBKBP1

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

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 estrogen receptor-positive breast cancer. It may play a role in the structure and organization of cells.

CCDC170

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 characterized, 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

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 contributes to cellular transport processes. Studying TBC1D8B can offer insights into cellular homeostasis and conditions linked to intracellular transport dysfunction.

TBC1D8B

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

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

TNFSF18 (TNF Superfamily Member 18): TNFSF18 is a molecule that plays a role in regulating immune responses within the body. Also referred to as GITR ligand, it binds to GITR on T cells and regulatory T cells, enhancing effector T cell activity while inhibiting regulatory T cell function. This dual function makes TNFSF18 an important target in cancer immunotherapy and the treatment of autoimmune diseases.

TNFSF18

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

TNFRSF1A (Tumor 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 tumor 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 signaling pathways that influence cell survival, death, and inflammatory processes, highlighting its importance in immune system regulation and disease mechanisms.

TNFRSF1A

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, underscoring its importance in autophagy, apoptosis, and overall cellular homeostasis.

PDCD6IP

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 its importance for cell proliferation and DNA repair. Alterations in this pathway can affect cellular energy balance and genomic stability, potentially impacting metabolic health and the DNA damage response.

PRTFDC1

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

CD28

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 associated with catecholaminergic polymorphic ventricular tachycardia, a condition characterized by irregular heartbeats triggered by physical activity or stress.

CASQ2

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 cellular energy regulation. It plays a role in sensing cellular energy status and activating pathways that help restore energy balance.

PRKAG2

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

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

IRF8

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

PAX1

SERAC1 (Serine Active Site Containing 1): SERAC1 is a gene that codes for a protein involved in lipid metabolism and mitochondrial function. It plays a role in the synthesis of cardiolipin, a specialized phospholipid essential for the integrity and function of the mitochondrial membrane. Mutations in SERAC1 may disrupt cardiolipin production, potentially causing mitochondrial dysfunction and associated disorders.

SERAC1

MARCO (Macrophage Receptor With Collagenous Structure): MARCO is a receptor found on the surface of macrophages that plays a crucial role in the immune system's response to pathogens and particulate matter. It helps in recognizing and eliminating bacteria and environmental particles, thereby contributing to innate immunity and inflammation regulation.

MARCO

LEPR (Leptin Receptor): LEPR is a receptor for the hormone leptin, which plays 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, drugs, and other molecules. Mutations in PAPSS2 can affect skeletal development and lead to disorders such as spondyloepimetaphyseal dysplasia.

PAPSS2

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, maintaining a balance between cell growth and maturation. Dysregulation of GFI1B is linked to blood disorders such as anemia and thrombocytopenia, and it also contributes to the development of leukemia. Its function is vital for sustaining hematopoietic cell balance and underscores the complexity of blood cell production.

GFI1B

LPIN2 (Lipin 2): LPIN2 is a protein that plays a vital role in lipid metabolism and energy production, especially in converting phosphatidic acid to diacylglycerol, a crucial step in triglyceride and phospholipid synthesis. It also helps regulate gene expression related to lipid metabolism and inflammation. Mutations in LPIN2 are linked to Majeed syndrome, which is marked by chronic recurrent multifocal osteomyelitis, dermatitis, and dyserythropoietic anemia, highlighting its significance in both metabolic and immune functions.

LPIN2

NFIA (Nuclear Factor I A) is a transcription factor that plays crucial roles in regulating gene expression, cellular differentiation, and development. It is primarily found in the nucleus and is part of 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 known as NFIA recognition elements in gene promoters, modulating gene activity through interactions with co-regulators and chromatin-modifying enzymes.

NFIA

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

PRDM16

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

NFATC2

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 vital role in lipid metabolism and the transport of dietary fats. Dysregulation of LSR can contribute to lipid disorders and cardiovascular diseases.

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 found abundantly in various secretions, including saliva, tears, and milk, as well as in neutrophil granules. Apart from its antibacterial properties, LYZ also helps modulate inflammation and holds potential therapeutic uses in treating infections and inflammatory conditions.

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 odor 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 odor 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

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

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

TLN2

CNTN2 (Contactin 2): CNTN2 is a neuronal cell adhesion molecule, also known as TAG-1, that plays a key 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 associated with neurodevelopmental disorders and may impact neurological processes such as learning and memory.

CNTN2

LCT (Lactase): LCT is a gene that encodes the enzyme lactase, which is essential for digesting lactose found in milk. Variations in this gene can influence the body’s capacity to break down lactose, potentially causing lactose intolerance and associated gastrointestinal symptoms.

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

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

NNMT

PRR11 (Proline Rich 11): PRR11 is a gene that has been recently identified, with functions that are not yet fully understood. It is believed to play a role in cell cycle regulation and has been linked to cancer biology, particularly in processes such as cell proliferation and tumour growth.

PRR11

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 disorders and certain types of cancer.

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

HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2): HMGCS2 encodes an enzyme involved in the synthesis of ketone bodies, which act as alternative energy sources produced during fasting or periods of low carbohydrate intake. It plays a role in energy metabolism and is primarily expressed in the liver.

HMGCS2

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

LRRN1

TFRC (Transferrin Receptor): TFRC is a measure that reflects the activity of a key protein responsible for maintaining iron balance in the body. TFRC facilitates the uptake of transferrin-bound iron into cells and is essential for the production of red blood cells. It is also widely recognised as a marker of cellular growth, with irregularities linked to conditions such as anaemia and cancer.

TFRC

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

RBM17

TET2 (Tet Methylcytosine Dioxygenase 2): TET2 is an enzyme that catalyzes the conversion of 5-methylcytosine to 5-hydroxymethylcytosine in DNA. This activity plays a key role in active DNA demethylation, which is essential for regulating gene expression, guiding cellular differentiation, and maintaining genomic stability. Mutations in TET2 are frequently observed in hematological malignancies, including myelodysplastic syndromes and acute myeloid leukaemia, highlighting its role in epigenetic regulation and cancer development.

TET2

Tex26 (Testis Expressed 26): Tex26 is a gene primarily expressed in the testis and is believed to play a role in testicular function and development. Although its precise functions are not yet completely understood, Tex26 is regarded as significant in reproductive biology and may be relevant in fertility-related research.

Tex26

TUSC1 (Tumor Suppressor Candidate 1): TUSC1 is a gene thought to act as a tumor suppressor, involved in regulating cell growth and promoting apoptosis. Lower expression of TUSC1 has been detected in several cancers, indicating its possible protective role against cancer development.

TUSC1

TMEM243 (Transmembrane Protein 243): TMEM243 is a gene that encodes a transmembrane protein whose function is not yet fully understood. Like many proteins of this kind, it may be involved in cellular signaling or transport mechanisms.

TMEM243

APCS (Amyloid P Component, Serum): APCS is a protein that plays a key role in the innate immune system, helping in the response to infection and injury. It binds to pathogens and damaged cells to aid their removal and is also involved in amyloid plaque formation, connecting it to diseases like Alzheimer’s. Its functions in immune modulation and inflammation make it a focus of therapeutic research.

APCS

ARRDC3 (Arrestin Domain Containing 3): ARRDC3 is a gene involved in regulating cell signalling pathways and has been studied for its potential role in tumour suppression. It participates in receptor internalisation and may influence cellular responses to external signals, including those involved in metabolic regulation.

ARRDC3

ESR1, also known as Estrogen Receptor Alpha, is a protein that belongs to the nuclear hormone receptor family and acts as a transcription factor. It plays a crucial role in mediating the effects of estrogen, a steroid hormone, across different tissues in the body. ESR1 is vital for regulating gene expression in response to estrogen binding. In the absence of estrogen, ESR1 stays in the cytoplasm in an inactive state, attached to heat shock proteins. When estrogen binds, ESR1 undergoes a conformational change, detaches from the heat shock proteins, and moves to the nucleus to regulate gene transcription.

ESR1

PLEKHG1 (Pleckstrin Homology and RhoGEF Domain Containing G1): PLEKHG1 is a gene that encodes a protein containing pleckstrin homology and RhoGEF domains. These domains indicate that the protein plays a role in signalling pathways involved in cell morphology, cytoskeletal organisation, and cellular migration. Although its exact functions are still under investigation, PLEKHG1 is thought to contribute to the regulation of cytoskeletal dynamics and cell motility.

PLEKHG1

NKX2-1, also known as thyroid transcription factor 1 (TTF-1), is a transcription factor that regulates gene expression by binding to specific DNA sequences. A member of the NKX family of homeodomain-containing proteins, it plays a key role in the development and function of the thyroid, lung, and brain. In the thyroid, NKX2-1 is expressed during embryonic development and is essential for the formation and differentiation of thyroid follicular cells.

NKX2-1

PTPN7 (Protein Tyrosine Phosphatase, Non-Receptor Type 7): PTPN7 is an enzyme involved in cell signalling, particularly within the immune system. It plays a key role in regulating T-cell activation and differentiation, thereby influencing immune responses. Dysregulation of PTPN7 can contribute to immune-related disorders and may have implications in autoimmune diseases and cancer due to its effects on cell signalling pathways.

PTPN7

TRDMT1 (tRNA (cytosine(38)-C(5))-methyltransferase): TRDMT1 is an enzyme that catalyses the methylation of cytosine at position 38 in tRNA molecules. This modification, known as 5-methylcytosine (m5C), is important for tRNA stability, proper folding, and accurate codon recognition during protein synthesis. TRDMT1-mediated methylation supports key cellular processes such as gene expression regulation and stress responses. Dysregulation of TRDMT1 activity has been linked to diseases including cancer and neurodegenerative disorders.

TRDMT1

IL12B (Interleukin 12B): IL12B is a gene that encodes the p40 subunit of interleukin-12 (IL-12), a cytokine involved in immune responses. IL-12 plays a key role in activating the immune system by promoting the production of interferon-gamma (IFN-γ) and stimulating the activity of T cells and natural killer (NK) cells to fight infections and tumours.

IL12B

LYRM7 (LYR Motif Containing 7): LYRM7 is a gene that encodes a protein involved in the assembly of mitochondrial complex I, a crucial component of the mitochondrial respiratory chain. This complex is vital for energy production through oxidative phosphorylation. Mutations or dysregulation of LYRM7 can lead to mitochondrial dysfunction, contributing to metabolic and neurodegenerative disorders. Its role in energy metabolism highlights its significance in maintaining cellular function and viability.

LYRM7

MECOM (MDS1 and EVI1 Complex Locus): MECOM is a transcriptional regulator involved in hematopoiesis and the development of certain cancers, especially myeloid leukemia. It encodes EVI1, a protein that functions in gene regulation, cell proliferation, and cell differentiation.

MECOM

FARSA (Phenylalanyl-tRNA Synthetase Subunit Alpha): FARSA is a protein involved in the translation process of protein synthesis, specifically responsible for attaching phenylalanine to its corresponding tRNA. This function is essential for the accurate translation of mRNA into proteins. Mutations or dysregulation of FARSA can lead to errors in protein synthesis, potentially causing various cellular dysfunctions and contributing to disease development.

FARSA

NR3C2, also known as Nuclear Receptor Subfamily 3 Group C Member 2 or mineralocorticoid receptor (MR), is a nuclear receptor protein that plays a key role in regulating electrolyte balance and blood pressure. It acts as a ligand-activated transcription factor primarily found in the cytoplasm of target cells. Upon binding to mineralocorticoid hormones like aldosterone, NR3C2 undergoes a conformational change and moves into the nucleus to mediate its effects. Its main function includes regulating sodium and potassium ion transport in the kidney, colon, and salivary glands.

NR3C2

ADAL (Adenosine Deaminase-Like): ADAL (Adenosine Deaminase-Like) is a protein similar to adenosine deaminase (ADA) and plays a role in purine metabolism. It is crucial in the breakdown of adenosine, a molecule vital for cellular energy transfer and signalling. ADAL’s activity in adenosine metabolism is essential for maintaining cellular energy balance and nucleotide homeostasis.

ADAL

C-reactive protein (CRP) testing measures the level of CRP in the blood, a marker that reflects inflammation in the body. Elevated CRP levels can indicate acute inflammation, infections, or chronic conditions such as rheumatoid arthritis and heart disease. This test is commonly used to diagnose and monitor inflammatory conditions, detect flare-ups, and assess cardiovascular risk. Regular CRP testing helps guide treatment decisions and evaluate how well therapies are reducing inflammation.

FOXO3 (Forkhead Box O3): FOXO3 is a transcription factor that plays a crucial role in regulating genes involved in cell cycle arrest, DNA repair, and apoptosis. It is a significant factor in the study of longevity and age-related diseases, influencing pathways that impact the ageing process. In ageing research, FOXO3 stands out as a key element, with scientists striving to understand its role in the complex mechanisms of life and ageing.

FOXO3

PRB2 (Proline-Rich Protein BstNI Subfamily 2): PRB2 is a protein involved in oral and salivary biology. It plays a key role in the formation of the dental pellicle and the defence of the oral mucosa. As part of the proline-rich protein family, PRB2 is important for maintaining oral health and protecting against dental caries and other oral diseases.

PRB2

COG1 (Component Of Oligomeric Golgi Complex 1): COG1 is a part of the COG complex, a vital component for normal Golgi function and protein trafficking within the cell. Proper functioning of COG1 is crucial for glycoprotein processing, and mutations in COG1 can impair Golgi activity, resulting in congenital disorders of glycosylation—a group of metabolic disorders that lead to various developmental issues.

COG1

PAX5, also known as Paired Box 5, is a transcription factor that plays a crucial role in B-cell development and differentiation. It is part of the PAX family of transcription factors, characterized by a conserved paired box domain involved in DNA binding and protein interactions. PAX5 is vital for determining B-cell lineage commitment during hematopoiesis and is expressed in progenitor cells destined to become B cells, supporting their progression from hematopoietic stem cells.

PAX5

EIF4A1, also known as Eukaryotic Translation Initiation Factor 4A1, is a highly conserved RNA helicase enzyme that plays a vital role in the initiation of translation, the fundamental process of protein synthesis. As a member of the DEAD-box RNA helicase family, EIF4A1 is responsible for unwinding secondary structures in mRNA, enabling ribosomes to access the initiation codon and commence protein production. It functions as part of the eukaryotic translation initiation complex, collaborating with other initiation factors to bind and scan the 5' untranslated region (UTR) of mRNA.

EIF4A1

LGR4 (Leucine-Rich Repeat-Containing G Protein-Coupled Receptor 4): LGR4 is a G protein-coupled receptor that plays a crucial role in signalling pathways, including Wnt signalling. It is essential for tissue development, maintenance, and homeostasis, and has been researched for its functions in stem cell biology and organ regeneration.

LGR4

FGFR2 (Fibroblast Growth Factor Receptor 2): FGFR2 is a receptor that binds fibroblast growth factors and plays a crucial role in cell growth, differentiation, and tissue repair. It is vital for normal development, and mutations in FGFR2 are associated with several developmental disorders such as craniosynostosis and skeletal dysplasia, as well as being involved in certain cancers.

FGFR2

SH2B3 (SH2B Adaptor Protein 3): SH2B3 (SH2B Adaptor Protein 3) is an adaptor protein that negatively regulates cytokine signaling in hematopoietic cells. It plays a key role in maintaining hematopoietic stem cell homeostasis and controlling immune responses. Mutations in SH2B3 are linked to various hematologic disorders, including myeloproliferative neoplasms and autoimmune diseases, highlighting its importance in blood cell development and immune regulation.

SH2B3

LEMD3 (Lamin-Associated Polypeptide 2, Isoform 1): LEMD3 is a gene that codes for a protein linked to the nuclear envelope, playing a key role in the structure and organization of the nucleus. Mutations in LEMD3 are associated with Buschke-Ollendorff syndrome, a rare genetic condition affecting both bone and skin.

LEMD3

NFKBIE (NF-Kappa-B Inhibitor Epsilon): NFKBIE is a gene that encodes a key regulator of the NF-kappa-B pathway, which plays a vital role in immune responses, inflammation, and cell survival. It functions by inhibiting NF-kappa-B activity, thereby controlling the expression of genes involved in immune and inflammatory processes. Dysregulation of NFKBIE has been linked to autoimmune diseases, chronic inflammation, and cancer, highlighting its role in immune regulation and disease progression.

NFKBIE

ETS2 (ETS Proto-Oncogene 2, Transcription Factor): ETS2 is a gene that encodes a transcription factor belonging to the ETS family. Transcription factors like ETS2 regulate the expression of specific target genes by binding to distinct DNA sequences. ETS2 plays crucial roles in cellular processes such as cell proliferation, differentiation, and development. Dysregulation of ETS2 has been associated with cancer and developmental disorders.

ETS2

LRRC6 (Leucine-Rich Repeat-Containing Protein 6): LRRC6 is a gene that encodes a protein involved in the structure of cilia within cells. Cilia play a crucial role in cellular movement and signaling. Mutations in LRRC6 can lead to ciliopathies, a group of genetic disorders characterised by ciliary dysfunction and a variety of clinical symptoms.

LRRC6

BORCS7 (BLOC-1 Related Complex Subunit 7): BORCS7 is a part of the BLOC-1 (Biogenesis of Lysosome-related Organelles Complex-1). It plays a crucial role in the formation of lysosome-related organelles, such as melanosomes in melanocytes. Dysfunction in BORCS7 can impact pigmentation and neurological functions.

BORCS7

SETD7 (SET Domain Containing 7, Lysine Methyltransferase): SETD7 is a gene involved in epigenetic regulation, encoding an enzyme that methylates histone proteins. This modification plays a key role in controlling gene expression. Dysregulation of SETD7 activity has been linked to various diseases, including cancer and cardiovascular disorders.

SETD7

CCR3 (C-C Motif Chemokine Receptor 3): CCR3 is a receptor that plays a crucial role in the recruitment and activation of eosinophils, basophils, and T cells, contributing significantly to inflammatory responses and the pathology of allergic diseases. It acts as the principal receptor for eotaxin, a chemokine responsible for eosinophilic inflammation observed in conditions like asthma and allergic rhinitis. Dysregulation of CCR3 signaling can exacerbate allergic and inflammatory disorders, highlighting its potential as a target for therapeutic intervention.

CCR3

CDK17 (Cyclin-dependent kinase 17): CDK17 is a nuclear enzyme belonging to the cyclin-dependent kinase family, essential for cell cycle regulation, transcriptional control, and cellular differentiation. Acting as a serine/threonine protein kinase, CDK17 phosphorylates target proteins to modulate their activity. It plays a key role in driving cell cycle progression, particularly in promoting the transition from the G1 phase to the S phase, where DNA replication occurs.

CDK17

KIAA1109: KIAA1109 is a gene linked to various autoimmune conditions, including rheumatoid arthritis, systemic lupus erythematosus, and inflammatory bowel disease. Although its precise function is not completely understood, it is believed to play a crucial role in immune regulation and the body’s inflammatory responses. Research on KIAA1109 is vital for comprehending the genetic foundations of autoimmune disorders and for aiding the development of targeted treatments.

KIAA1109

STXBP5 (Syntaxin Binding Protein 5): STXBP5 is a protein that plays a crucial role in regulating neurotransmitter release at synapses. It interacts with elements of the SNARE complex, aiding vesicle trafficking and exocytosis. STXBP5 is vital for proper synaptic function and has been associated with neurological disorders.

STXBP5

GALNT3 (Polypeptide N-Acetylgalactosaminyltransferase 3): GALNT3 is a gene that encodes a protein involved in O-linked glycosylation, which adds N-acetylgalactosamine to proteins. This modification is crucial for proper protein function and cell signalling. Mutations in GALNT3 can disrupt calcium and phosphate balance, causing disorders such as familial tumoral calcinosis.

GALNT3

MYH15 (Myosin Heavy Chain 15): MYH15 is a gene that encodes a myosin heavy chain protein, primarily expressed in skeletal muscle. Myosins are motor proteins essential for muscle contraction and cellular movement. While the specific functions of MYH15 are still under investigation, it may play a role in muscle development and overall muscle function.

MYH15

HSD17B13, also known as Hydroxysteroid 17-beta dehydrogenase 13, is an enzyme predominantly found in the liver and plays a role in the metabolism of steroid hormones and fatty acids. It is part of the hydroxysteroid (17-beta) dehydrogenase (HSD17B) family, which catalyses the conversion of hydroxysteroids to ketosteroids and the reverse. HSD17B13 is crucial for fatty acid metabolism, especially in the oxidation of long-chain fatty acids, and is localised to the peroxisomes — cellular organelles tasked with fatty acid processing. Its enzymatic function is vital for converting long-chain fatty acyl-CoAs into 3-ketoacyl-CoAs, supporting liver health and lipid metabolism.

HSD17B13

MCPH1 (Microcephalin 1): MCPH1 is a gene that plays a crucial role in brain development, especially in regulating brain size. It is involved in the DNA damage response and the control of the cell cycle. Mutations in MCPH1 can cause microcephaly, underscoring its vital role in neurodevelopment.

MCPH1

CNTNAP2, also known as Contactin Associated Protein-Like 2, is a cell adhesion molecule that belongs to the neurexin superfamily. It plays a key role in the development and function of the nervous system, particularly in neuronal migration, axon guidance, synapse formation, and signal transmission. CNTNAP2 is predominantly expressed in the developing nervous system, where it interacts with other cell adhesion molecules, extracellular matrix proteins, and signalling molecules to regulate proper neuronal positioning and axonal pathfinding. Dysregulation of CNTNAP2 expression or function can impact brain development and neural connectivity.

CNTNAP2

LRRC42 (Leucine-rich repeat-containing protein 42): LRRC42 is a gene that encodes a protein belonging to the leucine-rich repeat (LRR) family, characterised by repeating sequences rich in leucine residues. Predominantly located in the cytoplasm or on the cell membrane, LRRC42 is involved in cellular processes such as signal transduction, protein-protein interactions, and cell adhesion. Its LRR domains serve as interaction interfaces, enabling LRRC42 to bind specific partner proteins and participate in diverse cellular pathways.

LRRC42

MFF (Mitochondrial Fission Factor): MFF is a protein that plays a crucial role in mitochondrial dynamics, especially in the process of mitochondrial fission. By recruiting dynamin-related protein 1 (Drp1) to the outer mitochondrial membrane, MFF aids in the division of mitochondria, which is vital for proper mitochondrial distribution, quality control, and energy metabolism. This process supports cell health, growth, and adaptation to metabolic demands. Dysregulation of MFF can disrupt mitochondrial shape and function, impacting cellular energy balance and contributing to disease.

RREB1 (Ras Responsive Element Binding Protein 1): RREB1 is a gene that encodes a transcription factor that binds to the Ras-responsive element (RRE). It plays a role in regulating gene expression in response to Ras signaling and is involved in cell growth and proliferation.

COG1

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