Defective ABCB11 does not transport bile salts from cytosol to extracellular region

Stable Identifier
R-HSA-5678517
Type
Reaction [transition]
Species
Homo sapiens
Compartment
plasma membrane, cytosol
Synonyms
Transport (efflux) of bile salts by ABCB11 (bile salt export pump)
ReviewStatus
5/5
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Defective ABCB11 does not transport bile salts from cytosol to extracellular region
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The bile salt export pump ABCB11 mediates the release of bile salts from liver cells into bile. Defects in ABCB11 can cause two clinically distinct forms of cholestasis; progressive familial intrahepatic cholestasis 2 (PFIC2; MIM:601847) and benign recurrent intrahepatic cholestasis 2 (BRIC2; MIM:605479). Cholestasis is characterized by the retention of bile acids or salts. Bile acids can damage hepatocytes and bile duct cells leading to inflammation, fibrosis, cirrhosis and eventually carcinogenesis. Mutations causing PFIC2 include R575* and R1057* (Noe et al. 2005). Mutations causing BRIC2 include E297G and R432T (Strautnieks et al. 1998).
Literature References
PubMed ID Title Journal Year
9806540 A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Dahl, N, Bull, LN, Mieli-Vergani, G, Freimer, NB, Thompson, RJ, Kocoshis, SA, Baker, A, Németh, A, Pawlowska, J, Knisely, AS, Sokal, E, Tanner, MS, Ling, V, Strautnieks, SS, Childs, S, Dahan, K, Arnell, H, Kagalwalla, AF, Gardiner, RM

Nat. Genet. 1998
16039748 Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis

Pauli-Magnus, C, Jochum, W, Haberl, M, Noe, J, Meier, PJ, Mullhaupt, B, Kullak-Ublick, GA, Kerb, R, Stieger, B

J Hepatol 2005
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Catalyst Activity

ABC-type bile acid transporter activity of ABCB11 mutants [plasma membrane]

Physical Entity
ABCB11 mutants [plasma membrane] (Homo sapiens)
Activity
ABC-type bile acid transporter activity (GO:0015432)
Normal reaction
ABCB11 transports bile salts from cytosol to extracellular region (Homo sapiens)
Functional status

Loss of function of ABCB11 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
intrahepatic cholestasis DOID:1852 intrahepatic cholestasis of pregnancy
Authored
Jassal, B  (2015-02-24)
Reviewed
Moitra, K  (2015-04-28)
Created
Jassal, B  (2015-02-24)
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