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Gene information for SCN8A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6334
Official gene symbolSCN8A
Full namesodium channel, voltage gated, type VIII, alpha subunit
Aliases,CERIII,MED,NaCh6,Nav1.6,PN4,
Gene summaryThis 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.
LocationChromosome: 12   Locus: 12q13
Gene position51985020 - 52202307  Map Viewer
Gene orientationplus
Gene size217288 bp
Gene sequence
OMIM ID600702