SCN8A sodium voltage-gated channel alpha subunit 8 [ Homo sapiens (human) ] - Gene - Data resources

6334

SCN8A sodium voltage-gated channel alpha subunit 8 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 6334)

Symbol: SCN8A

Full name: sodium voltage-gated channel alpha subunit 8

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BFIS5; CERIII; CIAT; DEE13; EIEE13; MED; MYOCL2; NaCh6; Nav1.6; PN4

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 cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Expression: Biased expression in brain (RPKM 8.0), testis (RPKM 1.0) and 2 other tissues

Orthologs: mouse

Gene size: 221632bp

Exon count: 28