SCN5A

Sodium channel, voltage-gated, type V, alpha subunit
PDB rendering based on 1byy.
Identifiers
Symbols	SCN5A ; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 22738
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

WikiDoc Resources for SCN5A
Articles
Most recent articles on SCN5A Most cited articles on SCN5A Review articles on SCN5A Articles on SCN5A in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on SCN5A Images of SCN5A Photos of SCN5A Podcasts & MP3s on SCN5A Videos on SCN5A
Evidence Based Medicine
Cochrane Collaboration on SCN5A Bandolier on SCN5A TRIP on SCN5A
Clinical Trials
Ongoing Trials on SCN5A at Clinical Trials.gov Trial results on SCN5A Clinical Trials on SCN5A at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on SCN5A NICE Guidance on SCN5A NHS PRODIGY Guidance FDA on SCN5A CDC on SCN5A
Books
Books on SCN5A
News
SCN5A in the news Be alerted to news on SCN5A News trends on SCN5A
Commentary
Blogs on SCN5A
Definitions
Definitions of SCN5A
Patient Resources / Community
Patient resources on SCN5A Discussion groups on SCN5A Patient Handouts on SCN5A Directions to Hospitals Treating SCN5A Risk calculators and risk factors for SCN5A
Healthcare Provider Resources
Symptoms of SCN5A Causes & Risk Factors for SCN5A Diagnostic studies for SCN5A Treatment of SCN5A
Continuing Medical Education (CME)
CME Programs on SCN5A
International
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Business
SCN5A in the Marketplace Patents on SCN5A
Experimental / Informatics
List of terms related to SCN5A

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

The Na_v1.5 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.

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.CS1 maint: Multiple names: authors list (link)
• 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.