Description | Specificity: No cross reactivity with other proteins. Description: Rabbit IgG polyclonal antibody for RAB3GAP2 detection. Tested with WB, IHC-P, Direct ELISA in Human; Mouse; Rat.Background: 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 |
Product Specific References | 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. |