RAB3GAP1, KIAA0066, RAB3GAP, Rab3 GTPase-activating protein catalytic subunit, RAB3 GTPase-activating protein 130 kDa subunit, Rab3-GAP p130, Rab3-GAP
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010],disease:Defects in RAB3GAP1 are the cause of Warburg micro syndrome 1 (WARBM1) [MIM:600118]. WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia.,function:Probable catalytic subunit of a GTPase activating protein that has specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Specifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. May participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.,similarity:Belongs to the Rab3-GAP catalytic subunit family.,subcellular location:In neurons, it is enriched in the synaptic soluble fraction.,subunit:The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2.,tissue specificity:Ubiquitous.,
