Sodium Voltage-Gated Channel, Alpha Subunit 3

Alternative Names

  • SCN3A
  • Sodium Channel, Voltage-Gated, Type III, Alpha Subunit
  • Sodium Channel, Neuronal Type III, Alpha Subunit
  • Sodium Channel, Brain Type III, Alpha Subunit
  • NaC3
  • Nav1.3
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OMIM Number

182391

NCBI Gene ID

6328

Uniprot ID

Q9NY46

Length

116,525 bases

No. of Exons

32

No. of isoforms

4

Protein Name

Sodium channel protein type 3 subunit alpha

Molecular Mass

226294 Da

Amino Acid Count

2000

Genomic Location

chr2:165,087,525-165,204,049

Gene Map Locus
2q24.3

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, and is found in a cluster of five alpha subunit genes on chromosome 2. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006922.4:c.2624T>CUnited Arab EmiratesNC_000002.12:g.165130238A>GLikely Pathogenic, PathogenicPathogenicDevelopmental And Epileptic Encephalopathy 62NG_042289.1:g.78851T>C; NM_006922.4:c.2624T>C; NP_008853.3:p.Ile875Thr1057518801373960
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