Anti-RAB3GAP2 Antibody Picoband® Fluoro594 Conjugated

Rab3 GTPase-activating protein non-catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP2 gene. It is mapped to 1q41. 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.

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; RAB3GAP2; KIAA0839

Developmental Biology, G Protein Signaling, Nervous System Development, Neurogenesis, Neurology Process, Neuroscience, Neurotransmission, Organogenesis, Protein Trafficking, Regulators, Secretory Vesicles, Signal Transduction, Signaling Pathway, Small G Proteins, Vesicle Transport

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.

1. Borck, G., Wunram, H., Steiert, A., Volk, A. E., Korber, F., Roters, S., Herkenrath, P., Wollnik, B., Morris-Rosendahl, D. J., Kubisch, C. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome. Hum. Genet. 129: 45-50, 2011. 2. Handley, M. T., Morris-Rosendahl, D. J., Brown, S., Macdonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., Faravelli, F., Accorsi, P., and 23 others. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg Micro syndrome and Martsolf syndrome. Hum. Mutat. 34: 686-696, 2013.