SCN1A, sodium voltage-gated channel alpha subunit 1

SCN1A, sodium voltage-gated channel alpha subunit 1

• Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. 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, Oct 2015]

• Gene Synonyms (sodium channel protein type 1 subunit alpha, sodium channel protein type I subunit alpha, sodium channel protein, brain I alpha subunit, sodium channel voltage gated type 1 alpha subunit, sodium channel, voltage-gated, type I, alpha polypeptide, sodium channel, voltage-gated, type I, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.1, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI,)
• NCBI Gene ID: 6323
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P35498
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

sodium voltage-gated channel alpha subunit 1 interacts with:

• gigaxonin
  La ribonucleoprotein 7, transcriptional regulator
  syntrophin alpha 1

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