Gene Symbol | ABCC9 |
Entrez Gene ID | 10060 |
Full Name | ATP binding cassette subfamily C member 9 |
Synonyms | ABC37,ATFB12,CANTU,CMD1O,SUR2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, dilated, 1O, 608569 (3); Atrial fibrillation, familial, 12, 614050 (3); Hypertrichotic osteochondrodysplasia, 239850 (3) |