SCN5A is the gene that encodes the cardiac sodium channel Na V 1.5. SCN5A is a highly conserved gene [5] located on human chromosome 3, where it spans more than 100 kb. The gene consists of 28 exons, of which exon 1 and in part exon 2 form the 5' untranslated region (5’UTR) and exon 28 the 3' untranslated region (3’UTR) of the RNA.

This review summarizes the current knowledge of SCN5A genetic variations in different SCN5A-related cardiac disorders and the newly developed therapy strategies potentially useful to prevent and treat these disorders in clinical setting.

2024年12月25日 · SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5) is a Protein Coding gene. Diseases associated with SCN5A include Sudden Infant Death Syndrome and Long Qt Syndrome 3. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

More than 400 mutations in the SCN5A gene have been identified in people with Brugada syndrome, which is a heart condition characterized by an irregular heart rhythm (arrhythmia). SCN5A gene mutations also cause sudden unexpected nocturnal death syndrome (SUNDS), which was originally described in Southeast Asian populations. Researchers have ...

SCN5A is more widely distributed than previously thought and encodes the pore-forming alpha-subunit of the tetrodotoxin-resistant Na+ current in jejunum smooth muscle cells. SCN5A gene is not commonly involved in the pathogenesis of the Brugada Syndrome and associated disorders.

The gene SCN5A encodes the main cardiac sodium channel Na V 1.5. 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.

Gain-of-function mutations in SCN5A lead to more sodium influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a primary electrical disease of the heart.

2024年12月10日 · Clinical resource with information about SCN5A, Atrial fibrillation, familial, 10, Brugada syndrome 1, Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death., Common variants at ten loci influence QT interval duration in the QTGEN Study., Common variants at ten loci ...

Mutations in the cardiac sodium channel gene SCN5A are responsible for type-3 long QT disease (LQT3). The genesis of cardiac arrhythmias in LQT3 is multifaceted, and the aim of this study was to further explore mechanisms by which SCN5A mutations lead to arrhythmogenesis in vivo.

近年来发现SCN5A基因突变与病态窦房结综合征 (SSS)，房性心律失常 (心房颤动，心房静止)，室性心律失常和起搏夺获不良密切相关。 本文将详细阐述近年来SCN5A基因突变在SSS、房性心律失常 (心房颤动，心房静止)、起搏夺获不良、室性心律失常和长QT综合征3型的研究进展，SCN5A功能获得性和功能丧失致病突变潜在的机制以及目前存在的问题和挑战。 Abstract: In recent years, the rapid development of molecular biology and molecular electrophysiology has …