ABCB11

Also known as ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ATP binding cassette subfamily B member 11

ATP-binding cassette, sub-family B member 11 (ABCB11), also known as the bile salt export pump (BSEP), is a protein which in humans is encoded by the gene.

Gene data

ABCB11

Name: ATP binding cassette subfamily B member 11
Type: protein-coding
Position: 168,915,498–169,031,324 (−)
Aliases: ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP
Ensembl: ENSG00000276582
RefSeq RNA: NM_003742.4, XM_006712817.4, XM_011512078.3, XM_011512080.3, XM_017005165.2
RefSeq protein: NP_003733.2, XP_006712880.1, XP_011510380.1, XP_011510382.1, XP_016860654.1

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].

Pathways

ABC transporters - Homo sapiens (human)Bile secretion - Homo sapiens (human)Cholesterol metabolism - Homo sapiens (human)Metabolism Recycling of bile acids and salts Disease Synthesis of bile acids and bile salts Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Bile acid and bile salt metabolism Metabolism of lipids

via MyGene.info

Gene · Ensembl

ATP binding cassette subfamily B member 11

Symbol: ABCB11
Biotype: Protein coding
Organism: Homo sapiens
Location: Chr HSCHR2_1_CTG7_2:109,565-123,060
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 74509
exact match: identifiers.org/ncbigene/8647
genomic start: 168915498
genomic end: 169031324
cytogenetic location: 2q31.1

Sources (7)

via Wikidata · CC0

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Article

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Contents

Function
Clinical significance
References
Further reading
External links

ATP-binding cassette, sub-family B member 11 (ABCB11), also known as the bile salt export pump (BSEP), is a protein which in humans is encoded by the gene.

== Function ==