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Scn5a

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Title: Scn5a  
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Subject: Brugada syndrome, Dilated cardiomyopathy, Cardiac action potential, Lev's disease, Romano–Ward syndrome, Chromosome 3 (human), PDZ domain, EF hand, GPD1L
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Scn5a

Sodium channel, voltage-gated, type V, alpha subunit
Available structures
PDB Ortholog search: RCSB
Identifiers
SCN5A Gene
Orthologs
SpeciesHumanMouse

The Nav1.5 is a sodium ion channel protein that in humans is encoded by the SCN5A gene. Mutations in the gene are associated with long QT syndrome type 3 (LQT3), Brugada syndrome, primary cardiac conduction disease and idiopathic ventricular fibrillation.

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. .[2]

Interactions

Nav1.5 has been shown to interact with Syntrophin, alpha 1.[3]

Nav1.5 interacts with ankyrin-G through a nine-amino acid ankyrin-G binding sequence.[4]

See also

References

Further reading

External links

  • GeneReviews/NIH/NCBI/UW entry on Brugada syndrome
  • GeneReviews/NIH/NCBI/UW entry on Romano-Ward Syndrome
  • Medical Subject Headings (MeSH)


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