Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

Abstract

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… (More)
DOI: 10.1098/rsob.150047

Topics

Cite this paper

@inproceedings{Handley2015WarburgMS, title={Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation}, author={Mark T. W. Handley and Sarah M. Carpanini and Girish Mali and Duska J. Sidjanin and Irene A. Aligianis and Ian J Jackson and David R. FitzPatrick}, booktitle={Open biology}, year={2015} }