SCN1A Gene

sodium channel, voltage gated, type I alpha subunit

The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011]

scn1a Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term scn1a in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

SCN1A Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for SCN1A from the Pathway Commons Protein-Protein Interactions dataset.