SCN5A
SCN5A is a gene that provides instructions for making a protein called sodium channel, voltage-gated, type I, alpha subunit. This protein plays a crucial role in the electrical activity of heart cells by helping to control the flow of sodium ions in and out of these cells. Proper functioning of this channel is essential for maintaining a normal heartbeat.
Mutations in the SCN5A gene can lead to various heart conditions, including Long QT Syndrome and Brugada Syndrome. These conditions can disrupt the heart's rhythm, potentially leading to serious complications. Understanding SCN5A is important for diagnosing and treating these cardiac disorders.