Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

doi:10.1038/ng.538

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Article

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Nature genetics - 1 Apr 2010

Cullinane Andrew R, Straatman-Iwanowska Anna, Zaucker Andreas, Wakabayashi Yoshiyuki, Bruce Christopher K, Luo Guanmei, Rahman Fatimah, Gürakan Figen, Utine Eda, Ozkan Tanju B, Denecke Jonas, Vukovic Jurica, Di Rocco Maja, Mandel Hanna, Cangul Hakan, Matthews Randolph P, Thomas Steve G, Rappoport Joshua Z, Arias Irwin M, Wolburg Hartwig, Knisely A S, Kelly Deirdre A, Müller Ferenc, Maher Eamonn R, Gissen Paul

Abstract excerpt

Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC. We identified mutations in VIPAR (also called C14ORF133) in individuals with ARC without VPS33B defects. We show that VIPAR forms a functional complex with VPS33B that interacts with RAB11A. Knockdown of...

Topics

Animals
Animals, Genetically Modified
Arthrogryposis
Cadherins
Carrier Proteins
Cell Polarity
Cholestasis
Epithelium

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Kidney Diseases

Membrane Proteins

Mice

Mutation

Phenotype

Syndrome

Tight Junctions

Vesicular Transport Proteins

Zebrafish

Source

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Identifiers

PMID: 20190753
DOI: 10.1038/ng.538
PMCID: PMC5308204

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Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.PMID 20190753Read ↗

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