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.
Heart development before the fusion of the endocardial tubes. The heartbeat begins in the region of the pacemaker which has a spontaneous depolarization time faster than the rest of myocardium. The primitive ventricle acts as initial pacemaker. But this pacemaker activity is actually made by a group of cells that derive from the sinoatrial right venous sinus. These cells form an ovoid sinoatrial node (SAN), on the left venous valve. After the development of the SAN, the superior endocardial cushions begin to form a pacemaker as known as the atrioventricular node. With the development of the SAN, a band of specialized conducting