(RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic) (RAB3GAP2))
The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009].
Carpanini, McKie, Thomson, Wright, Gordon, Roche, Handley, Morrison, Brownstein, Wishart, Cousin, Gillingwater, Aligianis, Jackson: "A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton." in: Disease models & mechanisms, Vol. 7, Issue 6, pp. 711-22, (2015) (PubMed).
Gerondopoulos, Bastos, Yoshimura, Anderson, Carpanini, Aligianis, Handley, Barr: "Rab18 and a Rab18 GEF complex are required for normal ER structure." in: The Journal of cell biology, Vol. 205, Issue 5, pp. 707-20, (2014) (PubMed).