| Gene Symbol | SCN9A |
| Aliases | Nav1.7 |
| Function | Nav1.7 channels are voltage-gated sodium channels that mediate the rapid depolarization phase of action potentials in excitable cells. |
| Primary Expression | Highly expressed in peripheral sensory neurons (dorsal root ganglia, trigeminal ganglia), olfactory epithelium, and sympathetic neurons |
| Ensembl ID | ENSG00000169432 |
| GeneCards | SCN9A |
| Human Protein Atlas | SCN9A |
| Channel Structure | Alpha subunit consisting of four homologous domains (I-IV), each with six transmembrane segments (S1-S6) |
| Voltage Sensing | S1-S4 segments form the voltage sensor domain that detects membrane depolarization |
| Permeation | Segments S5-S6 form the pore domain that selects for sodium ions |
| Physiological Role | Critical for action potential initiation in nociceptors, contributing to pain perception and olfactory signal transduction |
| Inherited Erythromelalgia (IEM) | Gain-of-function mutations cause episodic pain attacks in extremities, typically triggered by warmth or exercise |
| Paroxysmal Extreme Pain Disorder (PEPD) | Mutations cause severe rectal or ocular pain episodes |
| Primary Erythromelalgia | Chronic burning pain syndrome |
| Alzheimer's Disease | Altered sodium channel expression may contribute to neuronal hyperexcitability; Nav1.7 upregulation observed in AD brain tissue |
| Associated Diseases | neurodegeneration |
| Interactions | NRF2 |
| KG Connections | 5 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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