Ontology highlight
ABSTRACT:
SUBMITTER: Handley MT
PROVIDER: S-EPMC4632505 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Handley Mark T MT Carpanini Sarah M SM Mali Girish R GR Sidjanin Duska J DJ Aligianis Irene A IA Jackson Ian J IJ FitzPatrick David R DR
Open biology 20150601 6
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary 'RAB3GAP' complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is ...[more]