Entrez gene ID | | 8647 |
Official gene symbol | | ABCB11 |
Full name | | ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
Aliases | | ,ABC16,BRIC2,BSEP,PFIC-2,PFIC2,PGY4,SPGP, |
Gene 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] |
Location | | Chromosome: 2 Locus: 2q24 |
Gene position | | 169887833 - 169779449 Map Viewer |
Gene orientation | | minus |
Gene size | | 108385 bp |
Gene sequence |
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OMIM ID | | 603201 |
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