| Entrez Gene ID |
8647 (NCBI Gene) |
| Official Gene Symbol |
ABCB11 (GeneCards) |
| Number of variants in ABCB11 in this database |
3 (view all the variants) |
| Full name |
ATP binding cassette subfamily B member 11 |
| Band |
2q31.1 |
| Other IDs |
Vega:
OTTHUMG00000154039
OMIM:
603201
HGNC:
HGNC:42
Ensembl:
ENSG00000073734
|
| Other names |
BSEP,
PGY4,
SPGP,
ABC16,
BRIC2,
PFIC2,
PFIC-2
|
| 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] |