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 the 3 phases of a sinoatrial node action potential. In the ventricular action potential, there are 5 phases (labelled 0-4), however pacemaker action potentials don’t have an obvious phase 1 or 2. Phase 4 This phase is also known as the pacemaker potential. Immediately following an action potential, when the membrane potential is very negative (it is hyperpolarised) the voltage slowly begins to increase. This is initially due to the closing of potassium channels, which reduces the flow of potassium ions (I) out of the cell (see phase 3, below). Alongside the deactivation of the potassium channels, channels known as