Literature associating RAB3GAP2 and frontometaphyseal dysplasia
RAB3GAP2 [ENSP00000351832]
RAB3 GTPase activating protein subunit 2 (non-catalytic); 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.
Synonyms: RAB3GAP2, AURKAPS1, F8WDJ2, Q9H2M9, DKFZP434D245 ...