QuickView for Nav1.1 (gene)

Gene Symbol:

SCN1A Homo sapiens

Full name:

sodium voltage-gated channel alpha subunit 1

Synonyms:

EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI, 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

Genomic Location:

Chr 2: 166553916-166638395

Description:

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 subun...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HNF4_DR1_Q3 ,  YCATTAA_UNKNOWN ,  GATA1_05 ,  AACTTT_UNKNOWN

Cytogenetic Map:

2q24.3

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