Gene:
sodium channel, voltage-gated, type I, alpha
Gene ID:
191177
Symbol:
SCN1A
Species:
1000
Description:
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit and 2 smaller auxiliary beta subunits. Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels (Goldin et al., 1986 [PubMed 2429308]; Isom, 2002). Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2, types I, II (SCN2A1, MIM 182390; SCN2A2, MIM 601219); and III (SCN3A, MIM 182391). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (SCN4A, MIM 603967; SCN5A, MIM 600163; SCN7A, MIM 182392).[supplied by OMIM]