Protein Name sodium voltage-gated channel alpha subunit 8
Organism Homo sapiens
Gene ID 6334
Gene Symbol

SCN8A

UniProt Q9UQD0 (SCN8A_HUMAN), Q6B4S4 (Q6B4S4_HUMAN)
Relationships Total Number of functionally related compound(s) : 68
Total Number of Articles : 79
Description

sodium voltage-gated channel alpha subunit 8

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

synonyms
  • sodium channel protein type 8 subunit alpha
  • hNa6/Scn8a voltage-gated sodium channel
  • sodium channel, voltage gated, type VIII, alpha subunit
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Properties