+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology

Gene 573(2): 177-187

The gene SCN5A encodes the main cardiac sodium channel NaV1.5. This channel predominates the cardiac sodium current, INa, which underlies the fast upstroke of the cardiac action potential. As such, it plays a crucial role in cardiac electrophysiology. Over the last 60years a tremendous amount of knowledge regarding its function at the electrophysiological and molecular level has been acquired. Furthermore, genetic studies have shown that mutations in SCN5A are associated with multiple cardiac diseases (e.g. Brugada syndrome, Long QT syndrome, conduction disease and cardiomyopathy), while genetic variation in the general population has been associated with differences in cardiac conduction and risk of arrhythmia through genome wide association studies. In this review we aim to give an overview of the current knowledge (and the gaps therein) on SCN5A and NaV1.5.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 059045307

Download citation: RISBibTeXText

PMID: 26361848

DOI: 10.1016/j.gene.2015.08.062

Related references

SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. Journal of Medical Genetics 39(12): 913-915, 2002

The cardiac sodium channel gene SCN5A mutation and dilated cardiomyopathy. Sheng Li Ke Xue Jin Zhan 41(1): 72-74, 2012

Readthrough-Promoting Drugs Gentamicin and PTC124 Fail to Rescue Nav1.5 Function of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Carrying Nonsense Mutations in the Sodium Channel Gene SCN5A. Circulation. Arrhythmia and Electrophysiology 9(11): -, 2016

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34(1): 9-16, 1996

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease. Journal of Pediatrics 165(5): 1050-1052, 2015

LQTS mutation N1325S in cardiac sodium channel gene SCN5A causes cardiomyocyte apoptosis, cardiac fibrosis and contractile dysfunction in mice. International Journal of Cardiology 147(2): 239-245, 2011

Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A. Journal of Arrhythmia 29(5): 291-295, 2013

Post-transcriptional regulation of cardiac sodium channel gene SCN5A expression and function by miR-192-5p. Biochimica et Biophysica Acta 1852(10 Pt A): 2024-2034, 2015

Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. Journal of Human Genetics 49(10): 573-578, 2004

Polymorphism H558R in the human cardiac sodium channel SCN5A gene is associated with atrial fibrillation. Journal of International Medical Research 39(5): 1908-1916, 2012

A Common Polymorphism of the Human Cardiac Sodium Channel Alpha Subunit (SCN5A) Gene Is Associated with Sudden Cardiac Death in Chronic Ischemic Heart Disease. Plos One 10(7): E0132137-E0132137, 2016

A further family with progressive cardiac conduction defect displays linkage to the sodium channel gene SCN5A. Journal of Medical Genetics 37(Supplement 1): S82, September, 2000

Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovascular Research 44(3): 507-517, 2000

Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proceedings of the National Academy of Sciences of the United States of America 99(9): 6210-6215, 2002

Sinus node dysfunction following targeted disruption of the murine cardiac sodium channel gene Scn5a. Journal of Physiology 567(Pt 2): 387-400, 2005