SCN5A Gene
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 sodium ions into cells. The sodium channels containing proteins produced from SCN5A are abundant in cardiac muscle cells and play key roles in these cells’ ability to generate and transmit electrical signals. Mutations in sodium channel alpha-subunit gene (SCN5A) result in multiple arrhythmic syndromes, including long QT3 (LQT3), Brugada syndrome (BS), an inherited cardiac conduction defect, sudden unexpected nocturnal death syndrome (SUNDS). 30 mutations in SCN5A are associated with LQT3. A majority of these mutations are missense.
