Features include sometimes findings: Intrahepatic cholestasis. 7 total HPO annotations.

ABCB11 encodes ATP binding cassette subfamily B member 11 (1,321 aa). Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner.

Benign recurrent intrahepatic cholestasis type 2 is associated with mutations in the ABCB11 gene on chromosome 2.

The ABCB11 protein participates in Defective ABCB11 causes PFIC2 and BRIC2, Recycling of bile acids and salts, and ABCB11 transports bile salts from cytosol to extracellular region pathways.

ABCB11 is classified as a druggable target (Abc Transporter, Cell Surface, Druggable Genome, and Transporter categories) with score 2.4.

253 pathogenic variants reported in ABCB11 in ClinVar, including hotspot variants LRG_1199p1:p.Arg1153Cys (2-star review) and LRG_1199p1:p.Glu297Gly (2-star review).

Genetic testing for ABCB11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for benign recurrent intrahepatic cholestasis type 2 has been reported in the published literature.

No clinical trials have been registered for benign recurrent intrahepatic cholestasis type 2.

10 publications have been identified in PubMed for benign recurrent intrahepatic cholestasis type 2. Research spans Case Report / Case Series (70%), Diagnostic / Biomarker (10%), and Clinical Trial Publication (10%).