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Definition ABCC9 is the gene on chromosome 12p12.1 that encodes ATP-binding cassette—sub-family C (CFTR/MRP)—member 9 (OMIM: 601439, UniProtKB: O60706), a protein of the MRP subfamily of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes, many of which are involved in multi-drug resistance. ABCC9 is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle, and may have a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive K+ channels.
Molecular pathology Defects of ABCC9 mutations cause:
• Atrial fibrillation—familial type 12 (OMIM:614050)
• Cantu syndrome (hypertrichotic osteochondrodysplasia, OMIM:239850)
• Cardiomyopathy—dilated 1O (OMIM:608569)
Synonyms SUR2, sulfonylurea receptor 2, ATP-binding cassette sub-family C member 9, ABC37, ATP-binding cassette transporter sub-family C member 9, EC 22.214.171.124