Ontology highlight
ABSTRACT:
SUBMITTER: Drenth JP
PROVIDER: S-EPMC2096434 | biostudies-literature | 2007 Dec
REPOSITORIES: biostudies-literature
Drenth Joost P H JP Waxman Stephen G SG
The Journal of clinical investigation 20071201 12
The voltage-gated sodium-channel type IX alpha subunit, known as Na(v)1.7 and encoded by the gene SCN9A, is located in peripheral neurons and plays an important role in action potential production in these cells. Recent genetic studies have identified Na(v)1.7 dysfunction in three different human pain disorders. Gain-of-function missense mutations in Na(v)1.7 have been shown to cause primary erythermalgia and paroxysmal extreme pain disorder, while nonsense mutations in Na(v)1.7 result in loss o ...[more]