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RNA tissue category: Group enriched (liver, testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)
GENE INFORMATION
Gene name
ABCB11 (HGNC Symbol)
Synonyms
ABC16, BSEP, PFIC-2, PFIC2, PGY4, SPGP
Description
ATP-binding cassette, sub-family B (MDR/TAP), member 11 (HGNC Symbol)
Entrez 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, Jul 2008]