SCN9A
SCN9A
A gene on chromosome 2q24 that encodes an alpha subunit of the voltage-gated sodium channel, which mediates voltage-dependent sodium ion permeability of excitable membranes. The SCN9A protein product plays a major role in nociception signalling.Molecular pathology
SCN9A mutations are associated with primary erythromelalgia, channelopathy-associated insensitivity to pain and paroxysmal extreme pain disorder.