RAB3GAP1, is a 981 amino acid protein that belongs to the Rab3-GAP catalytic subunit family. Rab 3 GAP p130 converts active RAB3-GTP to the inactive form RAB3-GDP, and is required for normal eye and brain development. Defects in Rab 3 GAP p130 are the cause of Warburg micro syndrome 1 (WARBM1). WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. The Rab 3 GAP p130 protein may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.
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Protein Aliases: Rab 3 GAP p130; Rab3 GAP p130; RAB3 GTPase activating protein subunit 1 (catalytic); RAB3 GTPase-activating protein 130 kDa subunit; Rab3 GTPase-activating protein catalytic subunit; Rab3-GAP; Rab3-GAP p130
Gene Aliases: KIAA0066; P130; RAB3GAP; RAB3GAP1; RAB3GAP130; WARBM1
UniProt ID: (Human) Q15042
Entrez Gene ID: (Human) 22930