|Other Names||Rab3 GTPase-activating protein catalytic subunit, RAB3 GTPase-activating protein 130 kDa subunit, Rab3-GAP p130, Rab3-GAP, RAB3GAP1, KIAA0066, RAB3GAP|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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.|
|Cellular Location||Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction|
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This gene encodes the catalytic subunit of a Rab GTPaseactivating protein. The encoded protein forms a heterodimer with anon-catalytic subunit to specifically regulate the activity ofmembers of the Rab3 subfamily of small G proteins. This proteinmediates the hydrolysis of GTP bound Rab3 to the GDP bound form.Mutations in this gene are associated with Warburg micro syndrome.Alternate splicing results in multiple transcript variants.
Ishibashi, K., et al. Genes Cells 14(1):41-52(2009)Abdel-Salam, G.M., et al. Genet. Couns. 18(4):423-435(2007)Olsen, J.V., et al. Cell 127(3):635-648(2006)Itoh, T., et al. Genes Cells 11(9):1023-1037(2006)Aligianis, I.A., et al. Nat. Genet. 37(3):221-223(2005)
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