RAB3GAP2, KIAA0839, Rab3 GTPase-activating protein non-catalytic subunit, RGAP-iso, Rab3 GTPase-activating protein 150 kDa subunit, Rab3-GAP p150, Rab3-GAP150, Rab3-GAP regulatory subunit
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],disease:Defects in RAB3GAP2 are the cause of Martsolf syndrome [MIM:212720]. Martsolf syndrome is characterized by congenital cataracts, mental retardation, and hypogonadism. Inheritance is autosomal recessive.,function:Regulatory 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. Rab3 GTPase-activating complex 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 regulatory 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.,
