SCN8A, Official Symbol SCN8Aprovided by HGNC Official Full Name sodium voltage-gated channel alpha subunit 8provided by HGNC Primary source HGNC:HGNC:10596 See related Ensembl:ENSG00000196876 MIM:600702; AllianceGenome:HGNC:10596 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MED; PN4; CIAT; BFIS5; DEE13; NaCh6; CERIII; EIEE13; MYOCL2; 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] Expression Biased expression in brain (RPKM 8.0), testis (RPKM 1.0) and 2 other tissues See more Orthologs mouse all