| Entrez Gene ID |
6334 |
| Official Gene Symbol |
SCN8A (GeneCards) |
| Full name |
sodium voltage-gated channel alpha subunit 8 |
| Location |
12q13.13 |
| Other ids |
Vega : OTTHUMG00000169490
MIM : 600702
HGNC : HGNC:10596
Ensembl : ENSG00000196876
|
| Other names |
MED,
PN4,
CIAT,
BFIS5,
NaCh6,
CERIII,
EIEE13,
Nav1.6
|
| 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] |