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Nav1.5

 
Wikipedia: Nav1.5
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Sodium channel, voltage-gated, type V, alpha subunit
PBB Protein SCN5A image.jpg
PDB rendering based on 1byy.
Available structures
1byy
Identifiers
Symbols SCN5A; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
External IDs OMIM600163 MGI98251 HomoloGene22738 IUPHAR: Nav1.5
Orthologs
Species Human Mouse
Entrez 6331 20271
Ensembl n/a ENSMUSG00000032511
RefSeq XM_001131636 (mRNA) NM_021544 (mRNA)
XP_001131636 (protein) NP_067519 (protein)
Location n/a Chr 9:
119.33 - 119.43 Mb
PubMed search [1] [2]

The Nav1.5 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. Alternative splicing results in two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.[1]

Contents

Interactions

Nav1.5 has been shown to interact with Syntrophin, alpha 1.[2]

See also

References

  1. ^ "Entrez Gene: SCN5A sodium channel, voltage-gated, type V, alpha subunit". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6331. 
  2. ^ Gee, S H; Madhavan R, Levinson S R, Caldwell J H, Sealock R, Froehner S C (Jan. 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". J. Neurosci. (UNITED STATES) 18 (1): 128–37. ISSN 0270-6474. PMID 9412493. 

Further reading

  • Viswanathan PC, Balser JR (2004). "Inherited sodium channelopathies: a continuum of channel dysfunction.". Trends Cardiovasc. Med. 14 (1): 28–35. doi:10.1016/j.tcm.2003.10.001. PMID 14720472. 
  • Catterall WA, Goldin AL, Waxman SG (2006). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.". Pharmacol. Rev. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. 
  • Wolf CM, Berul CI (2006). "Inherited conduction system abnormalities--one group of diseases, many genes.". J. Cardiovasc. Electrophysiol. 17 (4): 446–55. doi:10.1111/j.1540-8167.2006.00427.x. PMID 16643374. 

External links



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Wikipedia. This article is licensed under the Creative Commons Attribution/Share-Alike License. It uses material from the Wikipedia article "Nav1.5" Read more