ABCB11

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]

Description

ATP-binding cassette, sub-family B (MDR/TAP), member 11

Protein family

Membrane proteins predicted by MDM, Transporters

Chromosome

2:q31.1 (169779448 - 169887832)

Ensembl ID

ENSG00000073734  (ver. 69.37)

Orthologs

Mouse Abcb11: ENSMUSG00000027048

Human splice variants
Mouse splice variants