ATP binding cassette subfamily C member 6 (ABCC6)

ABCC6 encodes ATP binding cassette subfamily C member 6, a transporter protein primarily expressed in the liver and kidney, with minor presence in other tissues such as the skin, blood vessels, and eyes. This protein is a member of the ABC transporter superfamily, specifically the multidrug resistance protein (MRP) subfamily. It facilitates the transport of various physiological substances across cellular membranes, most notably stimulating the efflux of ATP, which is enzymatically converted extracellularly to pyrophosphate—a critical inhibitor of abnormal tissue mineralization. Mutations in ABCC6 are directly linked to connective tissue disorders, especially pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI), characterized by abnormal calcium deposition in arteries and connective tissue. Although much is known about its disease pathology, the precise substrates and pharmacological modulation of ABCC6 remain poorly defined, making therapeutic targeting challenging.

Other names

Multidrug resistance-associated protein 6MRP6ABC34Anthracycline resistance-associated proteinARAATP-binding cassette, sub-family C (CFTR/MRP), member 6EST349056MLP1MOAT-EMOATEMultispecific organic anion transporter-EPXE1URG7GACI2

Modulates extracellular nucleotide concentrations by transporting ATP from cells, resulting in increased levels of pyrophosphate, which inhibits ectopic mineralization. Dysfunction (loss-of-function mutations) leads to reduced extracellular pyrophosphate and increased risk of pathological calcification.