Entrez gene ID | | 6334 |
Official gene symbol | | SCN8A |
Full name | | sodium channel, voltage gated, type VIII, alpha subunit |
Aliases | | ,CERIII,MED,NaCh6,Nav1.6,PN4, |
Gene summary | | This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants. |
Location | | Chromosome: 12 Locus: 12q13 |
Gene position | | 51985020 - 52202307 Map Viewer |
Gene orientation | | plus |
Gene size | | 217288 bp |
Gene sequence |
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OMIM ID | | 600702 |
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