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 …

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 …

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 …

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 …

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 …

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 …

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 …

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.