Nav1.5 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. SCN5A is part of a family of 10 genes that encode different types of sodium channels, i.e. brain-type (Na1.1, Na1.2, Na1.3, Na1.6), neuronal channels (Na1.7, Na1.8 and Na1.9), skeletal muscle channels (Na1.4) and the cardiac sodium channel Na1.5. SCN5A is mainly expressed in the heart, where expression is abundant in working myocardium and conduction tissue. In contrast, expression is low in the sinoatrial node and atrioventricular node.
Sinoatrial node known as a spontaneous Ca spark. This increase in calcium within the cell then activates a sodium-calcium exchanger (NCX), which removes one Ca from the cell, and exchanges it for 3 Na into the cell (therefore removing a charge of +2 from the cell, but allowing a charge of +3 to enter the cell) therefore in-creasing the membrane potential. The calcium is later pumped back into the cell via calcium channels located on the cell membrane and SR membrane. The increase in membrane potential produced by these mechanisms, activates T-type calcium channels and then L-type calcium channels (which open very