機能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.
関連疾患Defects in RAB3GAP1 are the cause of Warburg micro syndrome type 1 (WARBM1) [MIM:600118]. A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
配列類似性Belongs to the Rab3-GAP catalytic subunit family.
細胞内局在Cytoplasm. In neurons, it is enriched in the synaptic soluble fraction.