Sodium Channel, Voltage-Gated, Type V, Alpha Subunit

Alternative Names

  • SCN5A
  • NAV1.5

Associated Diseases

Long QT Syndrome 1
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OMIM Number

600163

NCBI Gene ID

6331

Uniprot ID

Q14524

Length

101,617 bases

No. of Exons

29

No. of isoforms

6

Protein Name

Sodium Channel Protein Type 5 Subunit Alpha

Molecular Mass

226940 Da

Amino Acid Count

2016

Genomic Location

chr3:38,548,057-38,649,673

Gene Map Locus
3p22.2

Description

The SCN5A gene encodes an integral membrane protein which functions as a subunit of a tetrodotoxin-resistant voltage-gated sodium channel. This channel regulates the voltage-dependent sodium ion permeability of excitable membranes. In cardiac muscle tissue, as well as in nerves and neuroendocrine cells, this channel is responsible for the initial upstroke of the action potential.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000335.4:c.5366A>GTunisiachr3:38551003Likely PathogenicPathogenicLong QT Syndrome 1NG_008934.1:g.103670A>G; NM_000335.4:c.5366A>G; NP_932173.1:p.Asp1790Gly19947331767989
NM_198056.2:c.2164A>GLebanonchr3:38597827Likely PathogenicNG_008934.1:g.56846A>G; NM_198056.2:c.2164A>G; NP_932173.1:p.Thr722Ala
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