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.

The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. Learn about this gene and related health conditions.

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.

2005年3月31日 · SCN5A encodes the alpha subunit of the cardiac sodium channel and is responsible for the initial upstroke of the action potential in the EKG. This integral membrane protein mediates the voltage-dependent sodium ion permeability of excitable membranes.

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.

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.

2024年12月10日 · Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]

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.