| 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 |
| Loss-of-function | congenital inability to experience pain.[@cox2006] |
| Gain-of-function | inherited erythromelalgia and related severe pain disorders.[@zhang2014][@brenn2024] |
| Mixed/partial effects | variable penetrance syndromes, including some ocular and small-fiber pain phenotypes.[@brenn2024] |
| Associated Diseases | neurodegeneration |
| Interactions | NRF2 |
| KG Connections | 5 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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