ATP Binding Cassette Transporter C6 (ABCC6) Antibody

Background

ATP Binding Cassette Subfamily C Member 6 (ABCC6) is primarily recognized for its involvement in regulating tissue calcification processes. Mutations in the ABCC6 gene are linked to pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers in the skin, eyes, and cardiovascular system. ABCC6 functions as an efflux transporter for ATP metabolites, such as inorganic pyrophosphate (PPi), a critical inhibitor of pathological calcification. Expressed predominantly in the liver and kidneys, ABCC6 indirectly regulates extracellular matrix homeostasis and mineralization processes in peripheral tissues. The transporter’s activity impacts not only PXE pathology but also vascular calcification seen in chronic kidney disease and atherosclerosis. ABCC6 remains a focal point of research for developing targeted therapies to modulate its function and mitigate disease progression, emphasizing its importance in both genetic and acquired calcification disorders.