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Newark, CA 94560
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ABCB11 / BSEP
ATP-binding cassette, sub-family B (MDR/TAP), member 11
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.
| Gene Name: | ATP-binding cassette, sub-family B (MDR/TAP), member 11 |
| Family/Subfamily: | Transporter , ATP-binding cassette - ABCB/MDR |
| Synonyms: | ABCB11, ABC16, Bile salt export pump, BSEP, PGY4, Sister p-glycoprotein, BRIC2, PFIC-2, PFIC2, SPGP |
| Target Sequences: | NM_003742 NP_003733.2 O95342 |
Publications (1)
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