SCN4A

Also known as CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1

Sodium channel protein type 4 subunit alpha is a protein that in humans is encoded by the SCN4A gene.

Gene data

SCN4A

Name: sodium voltage-gated channel alpha subunit 4
Type: protein-coding
Position: 63,938,554–63,972,918 (−)
Aliases: CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Ensembl: ENSG00000007314
RefSeq RNA: NM_000334.4
RefSeq protein: NP_000325.4

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].

Pathways

Developmental Biology L1CAM interactions Muscle contraction Axon guidance Interaction between L1 and Ankyrins Cardiac conduction Phase 0 - rapid depolarisation Nervous system development

via MyGene.info

Wikidata facts

Show 6 more facts

HomoloGene ID: 283
exact match: identifiers.org/ncbigene/6329
genomic end: 62050278
genomic start: 62015914
cytogenetic location: 17q23.3
Commons category: Nav1.4 voltage-gated sodium channel

Sources (5)

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~4 min read

Article

6 sections

Contents

Function
Clinical significance
Periodic paralysis
Myotonia
References
Further reading

Sodium channel protein type 4 subunit alpha is a protein that in humans is encoded by the SCN4A gene.

The Nav1.4 voltage-gated sodium channel is encoded by the gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.