Also known asCDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
SCN5A is a gene that encodes for the alpha subunit of the cardiac sodium channel (NaV1.5). This channel is responsible for the initiation and propagation of electrical impulses in the heart, and is a key regulator of cardiac rhythm. The protein encoded by SCN5A is present in the heart's muscle cells, specifically in the cell membrane, and it allows the influx of sodium ions into the cell during the phase 0 of the cardiac action potential, called the depolarization phase, which is critical for the generation of cardiac impulses.
Mutations in the SCN5A gene have been linked to several inherited cardiovascular disorders, including long QT syndrome, Brugada syndrome and idiopathic ventricular fibrillation, which are characterized by abnormal heart rhythms that can lead to sudden cardiac death.
It is also been found that the SCN5A gene is the most common genetic cause of cardiac arrhythmias and is associated with many other cardiovascular diseases.