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.

The SCN5A gene belongs to a family of genes that provide instructions for making sodium channels. These channels open and close at specific times to control the flow of positively charged sodium atoms (sodium ions) into cells.

In this review, we will summarize SCN5A variants-related arrhythmia syndromes, structural cardiac disorders and the underlying potential mechanisms. Then a brief description will also be given to introduce the current knowledge regarding the therapy strategies.

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.

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.

Mar 30, 2025 · 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.

The positions of the S4s in domains III and IV of SCN5A are major determinants of the voltage dependence of lidocaine affinity. 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.

Makita et al. (2000) characterized the functional roles of the auxiliary beta subunit by coexpression of the beta subunit with either wildtype SCN5A or SCN5A carrying the heterologously expressed T1620M mutation in Xenopus oocytes.

We give an overview of the different phenotypes of "SCN5A disease" and discuss the importance of co-inherited genetic variants in the expression of SCN5A disease. Keywords: genetic variants, Brugada syndrome, SCN5A disease. The α-subunit of the cardiac sodium channel is called Nav1.5 and is encoded by the SCN5A gene.

The Sodium and Calcium Channel Arrhythmia Variant Curation Expert Panel (VCEP) will focus on the curation and interpretation of genetic variants in the SCN5A gene. SCN5A encodes the cardiac voltage-gated sodium channel NaV1.5, which plays a critical role in the initiation and propagation of the cardiac action potential.