Ontology highlight
ABSTRACT:
SUBMITTER: Cullinane AR
PROVIDER: S-EPMC5308204 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Cullinane Andrew R AR Straatman-Iwanowska Anna A Zaucker Andreas A Wakabayashi Yoshiyuki Y Bruce Christopher K CK Luo Guanmei G Rahman Fatimah F Gürakan Figen F Utine Eda E Ozkan Tanju B TB Denecke Jonas J Vukovic Jurica J Di Rocco Maja M Mandel Hanna H Cangul Hakan H Matthews Randolph P RP Thomas Steve G SG Rappoport Joshua Z JZ Arias Irwin M IM Wolburg Hartwig H Knisely A S AS Kelly Deirdre A DA Müller Ferenc F Maher Eamonn R ER Gissen Paul P
Nature genetics 20100228 4
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 vipar in zebrafish resulted in biliary excretion and E-cadherin defects similar to thos ...[more]