Sodium Voltage-Gated Channel, Alpha Subunit 4

Alternative Names

  • SCN4A
  • Sodium Channel, Voltage-Gated, Type IV, Alpha Subunit
  • NAV1.4
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OMIM Number

603967

NCBI Gene ID

6329

Uniprot ID

P35499

Length

34,365 bases

No. of Exons

24

No. of isoforms

1

Protein Name

Sodium channel protein type 4 subunit alpha

Molecular Mass

208061 Da

Amino Acid Count

1836

Genomic Location

chr17:63,938,554-63,972,918

Gene Map Locus
17q23.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000334.4:c.4382T>GSaudi ArabiaNC_000017.11:g.63941900A>CUncertain SignificanceLikely PathogenicParamyotonia Congenita of Von EulenburgNG_011699.1:g.36019T>G; NM_000334.4:c.4382T>G; NP_000325.4:p.Leu1461Arg21447747991301840
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