FEATURES

FAMILY

DESCRIPTION

Also known as SCN5A_HUMAN, SCN5A. This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1309946, PubMed:21447824, PubMed:25370050, PubMed:23420830, PubMed:23085483, PubMed:26279430, PubMed:26392562, PubMed:26776555). It is a tetrodotoxin-resistant Na(+) channel isoform (PubMed:1309946). This channel is responsible for the initial upstroke of the action potential. Channel inactivation is regulated by intracellular calcium levels (PubMed:19074138). Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L, WWP2 and GPD1L (PubMed:15217910, PubMed:15548568, PubMed:19666841). Interacts with CALM (PubMed:21167176, PubMed:22705208, PubMed:25370050). Interacts with FGF13; the interaction is direct and FGF13 may regulate SNC5A density at membranes and function (PubMed:21817159, PubMed:22705208, PubMed:26392562). May also interact with FGF12 and FGF14 (PubMed:26392562). Interacts with the spider Jingzhaotoxin-I (AC P83974, AC B1P1B7, AC B1P1B8) (PubMed:26721415). Interacts with ANK3 (PubMed:15579534).

EXTERNAL LINKS

SCN5A

Mutations

Mutation(s) distribution

Mutations table