SCN4A

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]

Description

Sodium voltage-gated channel alpha subunit 4

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Nucleoplasm, Centriolar satellite

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

17 (63938554 - 63972918)

Ensembl ID

ENSG00000007314  (ver. 103.38)

Orthologs

Mouse Scn4a: ENSMUSG00000001027

UniProt

P35499

neXtProt

NX_P35499

Human splice variants
Mouse splice variants

Protein structure