ABCC6

ABCC6 (MRP6) is an ATP-dependent organic-anion transporter expressed prominently at the basolateral membrane of hepatocytes. Human ABCC6 transports glutathione conjugates, including leukotriene C4, in membrane assays. Its principal physiological role is to support extracellular nucleotide release and inhibit ectopic mineralization. Released ATP is converted by ENPP1 to AMP and inorganic pyrophosphate (PPi), an inhibitor of calcium-phosphate crystal growth. Direct ATP passage through ABCC6 and the principal endogenous transported substrate remain unresolved. ABCC6 deficiency lowers circulating PPi, while local cellular pathways also influence mineralization. Biallelic pathogenic variants cause pseudoxanthoma elasticum and can cause generalized arterial calcification of infancy, affecting skin, eyes and arteries. The short alternative product URG7 has a distinct ER-membrane location and is not equivalent to the full-length transporter.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

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