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abcb11

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Official Full Name
ATP-binding cassette, sub-family B (MDR/TAP), member 11
Background
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.
Synonyms
ABCB11; ATP-binding cassette, sub-family B (MDR/TAP), member 11; bile salt export pump , BSEP, PFIC2, progressive familial intrahepatic cholestasis 2; bile salt export pump; ABC member 16; MDR/TAP subfamily; ABC16; PFIC 2; PGY4; SPGP; sister p-glycoprote; BSEP/SPGP

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