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PCDH8 (Protocadherin 8):PCDH8 is a gene that encodes a protein from the protocadherin family, which are cell adhesion molecules essential for forming and maintaining neural networks. It plays a key role in synaptic plasticity, important for learning and memory. Dysregulation of PCDH8 has been linked to neurodevelopmental disorders and is also being studied for its potential role in tumor suppression due to its function in cell-cell communication and nervous system signaling.

PCDH8

DAB1 (Disabled Homolog 1): DAB1 is a protein essential for brain development, particularly in controlling the positioning and migration of neurons. It plays a key role in the Reelin signaling pathway, which guides the organization of brain structures during early development. Mutations in DAB1 can lead to neurological disorders by disrupting the formation of proper neural networks.

DAB1

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

HHEX

CCND3 (Cyclin D3): CCND3 is a protein that plays a key role in regulating the cell cycle, particularly in the transition from the G1 phase to the S phase. Like CCND2, it is essential for proper cell division. Dysfunctions or abnormalities in CCND3 have been linked to various cancers, especially lymphomas and leukemias.

CCND3

LCE3C (Late Cornified Envelope 3C): LCE3C is a gene that is part of the late cornified envelope gene cluster, involved in forming the cornified envelope in the epidermis. This structure is important for maintaining skin barrier function. Variations in LCE3C have been linked to skin disorders such as psoriasis, highlighting its role in skin integrity and immune responses.

LCE3C

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

UCN3

SEC16B (SEC16 Homolog B): SEC16B is a gene involved in regulating protein trafficking within cells, especially in the endoplasmic reticulum (ER) to Golgi transport pathway. It plays a role in protein secretion and is important for cellular processes like the ER stress response and protein quality control.

SEC16B

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

TAFA1

ACKR1 (Atypical Chemokine Receptor 1): ACKR1 is a receptor that binds chemokines without triggering a signal, acting as a decoy to regulate the immune response. Formerly known as the Duffy antigen receptor for chemokines (DARC), ACKR1 influences leukocyte migration by sequestering chemokines. It also plays a key role in malaria resistance by serving as a receptor for Plasmodium vivax. Variations in ACKR1 can affect susceptibility to infections and autoimmune diseases, underscoring its importance in immunity and disease.

ACKR1

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

FBH1 (FBD4)

TEK (TEK receptor tyrosine kinase): TEK, also known as TIE2, is a receptor tyrosine kinase primarily expressed in endothelial cells. It plays a crucial role in angiogenesis and the maintenance of blood vessel integrity. TEK signaling is essential for vascular development and has been implicated in various vascular diseases, including venous malformations and angiosarcoma. Its role in angiogenesis also makes it a target for cancer therapy, especially in tumors where the formation of new blood vessels is a key factor for growth and metastasis.

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

TRAPPC14

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

IFNK

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

TLR4

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

SMARCA2

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

CAPS

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

CDH23

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

ATP10B

NANOS1 (Nanos C2HC-Type Zinc Finger 1): NANOS1 is a protein that functions as a post-transcriptional regulator, playing a key role in germ cell development. It is essential for maintaining germ cell viability and has been linked to studies on infertility and germ cell tumors.

NANOS1

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

PPA2

CNOT4 (CCR4-NOT Transcription Complex Subunit 4): CNOT4 is a component of the CCR4-NOT complex, which plays a key role in regulating gene expression through mechanisms like mRNA degradation and transcriptional control. This gene is involved in several cellular processes, including immune response and development. Dysregulation of CNOT4 has been linked to cancer and other diseases, emphasizing its significance in gene regulation and disease.

CNOT4

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

AUTS2

TAP2 (Transporter 2, ATP Binding Cassette Subfamily B Member): TAP2 is a gene that helps regulate antigen presentation in the immune system. It transports peptides into the endoplasmic reticulum, where they are loaded onto major histocompatibility complex (MHC) molecules. This process is essential for adaptive immune responses.


TAP2

MAPRE1 (Microtubule-Associated Protein, RP/EB Family, Member 1): MAPRE1, also known as EB1, is a protein involved in stabilizing and regulating microtubules, essential components of the cell’s cytoskeleton. It plays a key role in cell division, chromosome segregation, and is important for neuronal development and cancer biology.

MAPRE1

MSTN (Myostatin): MSTN is a protein that functions as a negative regulator of muscle growth and development. Reducing or blocking myostatin activity can lead to increased muscle mass and strength, making MSTN a key focus in research on muscle growth enhancement and treatments for muscle-wasting disorders.

MSTN

ARHGAP20 (Rho GTPase Activating Protein 20): ARHGAP20  is a gene involved in regulating Rho GTPases, which are key mediators of cytoskeletal dynamics, cell shape, movement, and growth. By promoting the inactivation of Rho GTPases, ARHGAP20 helps control cell migration and maintain cellular structure. Dysregulation of this signaling pathway may contribute to cancer progression, making ARHGAP20 a potential target for studying metastasis and developing anti-metastatic treatments.

ARHGAP20

PON2 (Paraoxonase 2): PON2 is a gene that encodes an enzyme belonging to the paraoxonase family, which plays a role in detoxification and antioxidant defense. This enzyme helps protect cells against oxidative stress and lipid peroxidation, making it important for cardiovascular health and other conditions related to oxidative damage.

POM2

ATP8B2 (ATPase Phospholipid Transporting 8B2): ATP8B2 is a gene that encodes an ATPase enzyme involved in transporting phospholipids across cell membranes. This process is essential for maintaining membrane integrity and cellular homeostasis. ATP8B2 likely plays a role in regulating the lipid composition of cell membranes.

ATP8B2

ACE (Angiotensin-Converting Enzyme): ACE is a key enzyme in the Renin-Angiotensin System (RAS) that helps regulate blood pressure and fluid balance. It converts angiotensin I into angiotensin II, a powerful vasoconstrictor that affects blood vessel tone, electrolyte levels, and stimulates aldosterone release. ACE also plays important roles in heart function, kidney health, and inflammatory processes. Imbalances in ACE activity are linked to conditions such as hypertension, heart failure, and kidney disease.

NPSR1 (Neuropeptide S Receptor 1): NPSR1 is a gene that encodes a G protein-coupled receptor for neuropeptide S, involved in regulating arousal, anxiety, and other behavioral responses. It has been studied for its role in sleep-wake regulation and its potential impact on psychiatric conditions such as anxiety and panic disorder. Variations in NPSR1 are also linked to susceptibility to asthma and other inflammatory diseases, highlighting its broader significance in health and disease.

NPSR1

FANCI (FA Complementation Group I): FANCI is a key protein in the Fanconi anemia (FA) pathway, essential for DNA repair. It plays a vital role in responding to DNA damage and maintaining genomic stability. Mutations in FANCI can lead to Fanconi anemia, a disorder marked by bone marrow failure, increased cancer risk, and developmental abnormalities.

FANCI

GALNT2 (Polypeptide N-Acetylgalactosaminyltransferase 2): GALNT2 is a gene that encodes an enzyme involved in glycosylation, adding N-acetylgalactosamine to proteins. This modification is important for proper protein function and cellular communication. Variations in GALNT2 have been linked to lipid metabolism and are associated with blood lipid levels, influencing the risk of cardiovascular diseases.

GALNT2

NTN5 (Netrin 5): NTN5 is a member of the netrin family, which are key proteins involved in neural development, particularly in guiding axon growth. While NTN5’s role is less studied compared to other netrins, it is believed to play an important part in nervous system development and may have implications in neurodegenerative diseases.

NTN5

CAV1 (Caveolin-1): CAV1 is a key structural protein of caveolae — small invaginations in the plasma membrane present in many vertebrate cells. It plays an important role in cellular processes such as signal transduction, lipid metabolism, and endocytosis. Acting as a scaffolding protein, CAV1 regulates multiple signaling pathways, including the activity of endothelial nitric oxide synthase (eNOS), which is vital for maintaining vascular tone and blood flow. Alterations in CAV1 expression or function have been associated with various diseases, including cancer and cardiovascular disorders.

CAV1

CPED1 (Cadherin Like And PC-Esterase Domain Containing 1): CPED1 is a protein linked to cell adhesion and signaling. While its exact biological role remains unclear, it may contribute to developmental processes and has been associated with variations in 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 key role in regulating ion transport and cellular signaling pathways. It is especially important in controlling sodium and water balance, making it relevant to hypertension and cardiovascular health. Its function in maintaining homeostasis highlights its significance in various health conditions.

NEDD4L

PPARA (Peroxisome Proliferator-Activated Receptor Alpha): PPARA is a nuclear receptor that regulates lipid metabolism, especially in the liver. It plays a central role in breaking down fatty acids, promoting their oxidation, and lowering triglyceride levels. PPARA also influences inflammatory pathways and is a therapeutic target for managing hyperlipidemia.

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 an essential role in maintaining cartilage strength and integrity. Mutations in COL2A1 are linked to several skeletal disorders, including osteoarthritis and different forms of chondrodysplasia.


COL2A1

TENT5A (Terminal Nucleotidyltransferase 5A): TENT5A is an enzyme that catalyzes 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 analogs, 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. While its specific biological functions are not fully characterized, enzymes in this family generally play important roles in purine and pyrimidine metabolism, which are essential for DNA and RNA synthesis, cellular signaling, 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 an important role in neural development and function. Mutations in PRICKLE1 have been linked to epilepsy and neurodevelopmental disorders.

PRICKLE1

ADRA2A (Alpha-2 Adrenergic Receptor 2A): ADRA2A is a G protein-coupled receptor that responds to the neurotransmitter norepinephrine. 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. While 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 organizing 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 belonging to the tetraspanin family. It plays an important 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 tumor 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 responses. Also known as ST2, IL1RL1 mediates IL-33’s effects in the immune system and plays a key role in conditions such as asthma, atopic dermatitis, and other allergic diseases. Its involvement in the IL-33 signaling pathway makes it a potential target for therapies aimed at allergic and inflammatory disorders.

IL1RL1

COPB1 (Coatomer Protein Complex Subunit Beta 1): COPB1 is a component of the coatomer protein complex that functions in intracellular transport. It is essential for moving proteins between the endoplasmic reticulum and the Golgi apparatus, a process critical 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 through the ubiquitin–proteasome pathway. It plays an important role in normal brain development and function. Mutations in UBE3A are linked to Angelman syndrome, a neurodevelopmental disorder marked by intellectual disability, developmental delay, and characteristic behavioral 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 lead to neurological impairments and reproductive disorders.

CLDN11

IL16 (Interleukin 16): IL16 is a cytokine that acts as a chemoattractant for specific immune cells, helping regulate immune responses and inflammation. It participates in cellular signaling pathways and has been linked to 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 thought to be involved in neural development and function, though its precise roles in the nervous system remain under investigation.

OLFM3

GPD2 (Glycerol-3-Phosphate Dehydrogenase 2): GPD2 is an enzyme that plays a key role in glycerol metabolism and lipid biosynthesis. It catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, an essential step in lipid synthesis. This function is vital 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 primarily expressed in the brain and involved in neural development. It plays a role in nervous system formation, maintenance, and neural cell adhesion and signaling. LRRC4 has been studied in relation to brain tumors, especially gliomas, making it a key focus in neurobiology and cancer research.

LRRC4

GPR83 (G Protein-Coupled Receptor 83): GPR83 (G Protein-Coupled Receptor 83) is a receptor found 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 behavior and metabolic disorders.

GPR83

CAVIN1 (Caveolae Associated Protein 1): CAVIN1 is a key protein required 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 associated with conditions like lipodystrophy and muscular dystrophies, underscoring 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 behavior. 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, ischemic injury, and viral infections.

MLKL

CNOT2 (CCR4-NOT Transcription Complex Subunit 2): CNOT2 is a component of the CCR4-NOT complex, which plays a crucial role in regulating gene expression, including the turnover and degradation of mRNA. It is involved in various aspects of RNA metabolism and can affect cellular processes such as development, differentiation, and stress response.

CNOT2

NBR1 (Neighbor 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 tied to disease prevention, including neurodegenerative disorders, cancer, and age-related conditions, highlighting its importance in cellular health and longevity.

NBR1

SLC1A7 (Solute Carrier Family 1 Member 7): SLC1A7 is a high-affinity glutamate transporter primarily involved in the removal of glutamate from the synaptic cleft. Its role is crucial in preventing excitotoxicity, a condition where excessive glutamate causes neuronal damage. Although it is less studied than other glutamate transporters, SLC1A7 contributes to the regulation of glutamatergic signaling, with potential implications for neurological disorders characterized by dysregulated 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 catalyzes 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 in the nervous system. It plays a key role in synaptic plasticity and neuronal communication, both essential 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 vital 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, underscoring its significance 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 key role in male fertility by supporting proper sperm formation. Mutations in SPATA5 have been linked to fertility problems and male infertility.

SPATA5

CADM1 (Cell Adhesion Molecule 1): CADM1 is a protein-coding gene that plays a key role in cell adhesion, a process essential for cellular communication and development. It is especially important in the nervous system and immune response. Mutations in CADM1 have been linked to several cancers and neurological disorders, underscoring 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 predominantly found in the lens of the eye. It is essential for maintaining lens transparency and refractive properties. CRYBB2 supports the structural integrity of the lens and is critical for proper vision.


CRYBB2

GBE1 (Glycogen Branching Enzyme 1): GBE1 is an enzyme essential for glycogen synthesis, a critical process in energy metabolism. It facilitates the formation of glycogen’s branched structure. Mutations in GBE1 can cause glycogen storage disease type IV, leading to abnormal glycogen accumulation in cells and affecting 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 leukemia (B-ALL), underscoring its key role in hematopoiesis 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 control, and cell volume regulation. Variants in the PIEZO1 gene are associated with hereditary xerocytosis — a disorder marked 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 generating energy during physical activity and muscle contraction, making it critical 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 different aspects of vesicle trafficking. RAB1A specifically controls transport between the endoplasmic reticulum and the Golgi apparatus, playing a key 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 key role in immune system regulation 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 trigger immune responses. Variations in HLA-DQA2 are linked to susceptibility to certain autoimmune diseases, highlighting its importance in immune tolerance and autoimmunity.

HLA-DQA2

ORMDL3 (ORMDL Sphingolipid Biosynthesis Regulator 3): ORMDL3  is a gene that regulates the production of sphingolipids, key components of cell membranes and signaling 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, underscoring its role in immune regulation and inflammation.

ORMDL3

TMC5 (Transmembrane Channel Like 5): TMC5 is a protein belonging to the TMC family, a group thought to function as ion channels or transporters. While its precise role remains unclear, TMC5 may play a part in sensory perception or maintaining cellular balance. Research is ongoing to understand its function and potential relevance to health and disease.

TMC5

IL13 (Interleukin 13): IL13 is a cytokine that reflects the regulation of immune responses, particularly in allergic inflammation and asthma. It plays a key role in modulating antibody production and controlling inflammatory reactions, especially in allergic diseases and defense against parasitic infections.

IL13

MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase): MTR is a critical enzyme involved in the remethylation pathway of homocysteine metabolism. It catalyzes 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 impact these critical functions.

GCK (Glucokinase): GCK is a gene that encodes the enzyme glucokinase, a key regulator of glucose metabolism in the body. Glucokinase catalyzes 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, especially in the formation of limbs and lungs. It plays a key role in the proliferation and differentiation of cells in these tissues. Mutations in FGF10 can result in developmental disorders such as lung aplasia.

FGF10

CATSPER2 (Cation Channel, Sperm Associated 2): CATSPER2 is essential for sperm motility and fertility, forming part of a complex calcium channel in sperm necessary for the hyperactivated motility required for fertilisation. Mutations in CATSPER2 can lead to male infertility due to impaired sperm function. Research on CATSPER2 offers insights into reproductive health and potential targets for contraception or treatments for infertility.

CATSPER2

MTAP (Methylthioadenosine Phosphorylase): MTAP is an enzyme involved in the methionine salvage pathway, recycling methylthioadenosine generated during polyamine synthesis. It plays a key role in nucleotide and polyamine metabolism, supporting cell growth and differentiation. Loss of MTAP is common in several cancers and is linked to poor prognosis, making it a potential therapeutic target due to its importance 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 marked by persistent inflammation and pancreatic damage. Understanding CTRC is important for studying pancreatic health and related disorders.

CTRC

TSPAN3 (Tetraspanin 3): TSPAN3 is a protein that belongs to the tetraspanin family, which is involved in cell adhesion, signaling, and membrane organization. It plays roles in processes such as immune cell activation and the spread of cancer cells (metastasis).

TSPAN3

PFKL (Phosphofructokinase, liver type): PFKL is an enzyme involved in glycolysis — an important metabolic pathway that breaks down glucose to produce energy. It plays a crucial role in glucose metabolism and energy production, especially in the liver where it supports both glucose utilization 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 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, highlighting 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 signaling 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 signaling, 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 signaling molecules in cellular processes. Located in the endoplasmic reticulum (ER), CERS6 catalyzes 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.


PDE4C

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