SCN4A
Sign in to saveAlso 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.
In the Vinony graph
Within Vinony's link graph, SCN4A is referenced by 373 other articles, and connects out to PubMed, Ensembl genome database project and water.
It is catalogued under topics including Electrophysiology, Genes on human chromosome 17 and Sodium channels.
Its subject is documented across 5 Wikipedia language editions.
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
sodium voltage-gated channel alpha subunit 4
- Symbol
- SCN4A
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:63,938,554-63,972,918
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 10 more facts
- HomoloGene ID
- 283
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/6329
- genomic end
- 62050278
- genomic start
- 62015914
- chromosome
- human chromosome 17
- cytogenetic location
- 17q23.3
- genetic association
- congenital myasthenic syndrome
- expressed in
- tibialis anterior muscle
- Commons category
- Nav1.4 voltage-gated sodium channel
via Wikidata · CC0
~4 min read
Encyclopedic overview
6 sectionsContents
- 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.
Excerpted from Wikipedia’s “SCN4A” article, available under the CC BY-SA 4.0 licence.