Medical Knowledge Cockpit cholestasis, intrahepatic

ABCB11

• Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability
• Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations
• Ku proteins function as corepressors to regulate farnesoid X receptor-mediated gene expression
• Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China

ATP8B1

• A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

ABCB4

• The human mdr3 gene encodes a novel P-glycoprotein homologue and gives rise to alternatively spliced mRNAs in liver

 

ABCB4

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 aredivided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a memberof the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well asantigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membraneproteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined;however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of thisgene results in several products of undetermined function. (provided by RefSeq, Jul 2008)

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 aredivided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a memberof the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well asantigen presentation. This gene encodes a full transporter and member of the p-glycoprotein family of membraneproteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined;however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of thisgene results in several products of undetermined function. (provided by RefSeq, Jul 2008)

 

• Recycling of bile acids and salts
  species not specified one gene

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