ATP Binding Cassette, Subfamily B, Member 11

Alternative Names

  • ABCB11
  • Bile Salt Export Pump
  • BSEP
  • Sister of P-Glycoprotein
  • SPGP
Back to search Result
OMIM Number

603201

NCBI Gene ID

8647

Uniprot ID

O95342

Length

115,929 bases

No. of Exons

30

No. of isoforms

1

Protein Name

Bile salt export pump

Molecular Mass

146407 Da

Amino Acid Count

1321

Genomic Location

chr2:168,915,468-169,031,396

Gene Map Locus
2q31.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003742.2:c.2610+841_2610+842insGCACUnited Arab EmiratesNC_000002.12:g.168943764_168943765insGTGCNG_007374.2:g.92633_92634insCACG; NM_003742.2:c.2610+841_2610+842insGCAC2307959
NM_003742.4:c.1897A>CUnited Arab EmiratesNC_000002.12:g.168969464T>GLikely PathogenicCholestasis, Progressive Familial Intrahepatic, 2NG_007374.2:g.66933A>C; NM_003742.4:c.1897A>C; NP_003733.2:p.Thr633Pro
NM_003742.4:c.487T>GLebanonLikely PathogenicCholestasis, Benign Recurrent Intrahepatic, 2NG_007374.2:g.40924T>G; NM_003742.4:c.487T>G; NP_003733.2:p.Trp163Gly
© CAGS 2024. All rights reserved.