The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders

Figure 3

Review of the disorders and pathophysiological mechanisms associated with the ABCC6 transporter, which is primarily expressed in the liver and kidney. Chronic deficiency of the transporter is involved in rare disorders such as pseudoxanthoma elasticum (PXE), generalized arterial calcification of infancy (GACI), and PXE phenocopies in thalassemias. More acute ABCC6 deficiency is a susceptibility factor and/or a modifier for stroke, myocardial infarction (MI), cardiac fibrosis, peripheral artery disease (PAD), age-related macular degeneration (AMD), chronic kidney disease (CKD), nephrocalcinosis, and dyslipidemia. BMP2: bone morphogenetic protein 2; MGP: matrix Gla protein; MSX2: muscle segment homeobox 2; OC: osteocalcin; PPi: inorganic pyrophosphate; TGF: transforming growth factor [4, 7–9, 12, 14, 28–45].