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SCN4A

SCN4A
Identifiers
Aliases SCN4A, CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, sodium voltage-gated channel alpha subunit 4
External IDs OMIM: 603967 MGI: 98250 HomoloGene: 283 GeneCards: SCN4A
RNA expression pattern
PBB GE SCN4A 206981 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000334

NM_133199

RefSeq (protein)

NP_000325

NP_573462

Location (UCSC) Chr 17: 63.94 – 63.97 Mb Chr 11: 106.32 – 106.35 Mb
PubMed search

NM_000334

NM_133199

NP_000325

NP_573462

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 SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.

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.


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Wikipedia

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