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Search results 1 to 1 out of 1 for Abcb11

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: Bile salt export pump (BSEP) is also known as ATP-binding cassette sub-family B member 11 (ABCB11). It is a major transporter responsible for biliary bile acid secretion []. Disruption of the receptor is a risk factor for intrahepatic cholestasis of pregnancy (ICP), a liver disorder associated with increased risk of intrauterine foetal death and prematurity []. Mutations in the ABCB11 gene also cause progressive familial intrahepatic cholestasis type 2 (PFIC2), which is characterised by cholestasis, accompanied with either normal or increased serum gamma-glutamyltransferase activity [, ].