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 hyperpolarisation-activated cyclic nucleotide–gated (HCN) channels, are activated. Activation of these channels at very negative membrane potential is an unusual property for ion channels, therefore the flow of sodium (Na) and some potassium (K) through the activated HCN channel is referred to as a "funny current" (I). This funny current causes the membrane potential of the cell to gradually increase, as the positive charge (Na and K) is flowing into the cell. Another mechanism involved in pacemaker potential is known as the calcium clock. Here, calcium is released spontaneously from the sarcoplasmic reticulum (a calcium store) into the cell, this is