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 slowly). These channels allow a flow of calcium ions (Ca) into the cell, making the membrane potential more positive. Phase 0 This is the depolarisation phase. When the membrane potential reaches a threshold value (around -20 to -50 mV), it begins to rapidly depolarise (become more positive). This is mainly due to the flow of Ca through the L-type calcium channels, which are now fully open. During this stage the T-type calcium channels and HCN channels deactivate. Phase 3 This phase is the repolarisation phase. This occurs due to the inactivation of the L-type calcium channels (preventing the movement of