Gene Symbol | ABCB11 |
Entrez Gene ID | 8647 |
Full Name | ATP binding cassette subfamily B member 11 |
Synonyms | ABC16,BRIC2,BSEP,PFIC-2,PFIC2,PGY4,SPGP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cholestasis, progressive familial intrahepatic 2, 601847 (3); Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) |