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Gene. 2015 Dec 1;573(2):177-87. doi: 10.1016/j.gene.2015.08.062. Epub 2015 Sep 8.

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

Author information

1
Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
2
Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: a.a.wilde@amc.uva.nl.
3
Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: e.m.lodder@amc.uva.nl.

Abstract

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.

PMID:
26361848
PMCID:
PMC6636349
DOI:
10.1016/j.gene.2015.08.062
[Indexed for MEDLINE]
Free PMC Article

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