Rab3 GTPase-activating protein non-catalytic subunit 2 (RAB3GAP2)

Rab3 GTPase-activating protein non-catalytic subunit 2 (RAB3GAP2) is the regulatory, non-catalytic subunit of the Rab3GAP complex, partnering with RAB3GAP1, the catalytic subunit[1][3][4]. The Rab3GAP complex regulates the activity of various Rab GTPases, particularly by acting as a GTPase-activating protein (GAP) for RAB3 and as a guanine nucleotide exchange factor (GEF) for RAB18. This regulation is essential for vesicle trafficking, neurotransmitter and hormone exocytosis, lipid droplet metabolism, and autophagy[1][2][3][4]. Mutations in RAB3GAP2 cause autosomal recessive neurodevelopmental disorders such as Warburg micro syndrome and Martsolf syndrome, which present with neurological, ocular, and endocrine abnormalities[1][2][3][4]. RAB3GAP2 is highly expressed in the brain, reflecting its critical role in neurodevelopment[4]. No currently approved drugs directly target RAB3GAP2, and there are no described mechanisms of action or biomarker applications. Safety concerns relate primarily to the consequences of inherited loss-of-function mutations, rather than therapeutic intervention[1][4].

Other names

KIAA0839Rab3-GAP150RAB3-GAP150DKFZP434D245SPG69RGAP-isoRab3-GAP p150Rab3-GAP regulatory subunitMARTS1RAB3GAP150WARBM2p150