ABCB11

ATP binding cassette subfamily B member 11

Ensembl:: ENSG00000073734
UniProt:: O95342
OMIM:: 603201
Synonyms:: ABC16, BSEP, PFIC-2, PFIC2, PGY4

Cilia effects upon perturbation of ABCB11

Ciliogenesis screen results (3 screens)

Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: decreased circulating triglyceride level; increased circulating alkaline phosphatase level; increased circulating unsaturated transferrin level; increased circulating potassium level; preweaning lethality; incomplete penetrance; decreased locomotor activity; increased circulating amylase level; abnormal lung morphology; increased circulating fructosamine level
Mouse ciliopathy phenotype:: abnormal retina morphology; increased circulating bilirubin level; increased circulating aspartate transaminase level

Subcellular localization

cytosol, nucleoplasm, plasma membrane

Functional category

Motile cilium & axoneme

Function

Mutations in ABCB11 cause Short-rib Thoracic Dysplasia (PMID: 37471416).

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