Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
SCN5A
Introduction
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]
Further reading
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]