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Article

A Molecular Mechanism of Intrahepatic Cholestasis in Osteo-Oto-Hepato-Enteric Syndrome.

Cellular and molecular gastroenterology and hepatology - 1 Jan 2026

Zhou Zhe, Lin Yuan, Imhann Floris, Verkade Henkjan J, Li Qinghong, van IJzendoorn Sven C D

Abstract excerpt

BACKGROUND & AIMS: Intrahepatic cholestasis is a hallmark of the rare osteo-oto-hepato-enteric syndrome. Osteo-oto-hepato-enteric syndrome is caused by pathogenic variants in uncoordinated (UNC) 45A. UNC45A encodes a cochaperone that coordinates the proper folding and function of target proteins. The molecular basis of cholestasis in osteo-oto-hepato-enteric syndrome has not been demonstrated. Notably, the...

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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Endoplasmic Reticulum Chaperone BiP

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Source

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Identifiers

PMID: 42167729
DOI: 10.1016/j.jcmgh.2026.101805
PMCID: PMC13324508

Genes

UNC45A
MYO5B
HSPA1A
RAB11A
ABCB11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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