A wide range of variants affecting ABCC6 have been identified and linked to the calcification disorder pseudoxanthoma elasticum through recessive [MIM: 264800]—and more rarely dominant [MIM: 177850]—inheritance [80–83], with the Alu-mediated cat5 deletion representing one of the most frequent variants [84, 85]. The gene discussed is COQ7; the disease is Pseudoxanthoma elasticum.