GJA5 and cardiovascular disorder: GJA5 (OMIM: 121013), containing three exons, encodes a gap junction protein connexin 40 which is expressed in the right ventricular outflow tract.[22] It plays critical roles in cell adhesion, intercellular communication and heart development.[13]GJA5 was regarded as a candidate gene which was implicated in the etiology of cardiovascular diseases in patients carrying chromosomal 1q21.1 duplication/deletion.