SCN5A
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- The correct title of this article is NaV1.5. It features superscript or subscript characters that are substituted or omitted because of technical limitations.
| Sodium channel, voltage-gated, type V, alpha subunit
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| PDB rendering based on 1byy. | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | SCN5A; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1 | |||||||||||||
| External IDs | OMIM: 600163 MGI: 98251 Homologene: 22738 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 6331 | 20271 | ||||||||||||
| Ensembl | na | ENSMUSG00000032511 | ||||||||||||
| Refseq | XM_001131636 (mRNA) XP_001131636 (protein) | NM_021544 (mRNA) NP_067519 (protein) | ||||||||||||
| Location | na | Chr 9: 119.33 - 119.43 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
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Ongoing Trials on SCN5A at Clinical Trials.gov Clinical Trials on SCN5A at Google
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US National Guidelines Clearinghouse on SCN5A
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Directions to Hospitals Treating SCN5A Risk calculators and risk factors for SCN5A
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Phone:617-525-6884
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The Nav1.5 sodium ion channel protein is encoded by the SCN5A gene. Mutations in the gene are associated with long QT syndrome type 3 (LQT3), Brugada syndrome, 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]
References
Further reading
- Viswanathan PC, Balser JR (2004). "Inherited sodium channelopathies: a continuum of channel dysfunction.". Trends Cardiovasc. Med. 14 (1): 28-35. 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.
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
