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The protein encoded by RAB3GAP2 belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. Additionally we are shipping RAB3 GTPase Activating Protein Subunit 2 (Non-Catalytic) Antibodies (24) and and many more products for this protein.
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RAB3GAP1 (show RAB3GAP1 ELISA Kits) and RAB3GAP2 modulate basal and rapamycin-induced autophagy
Rab18 (show RAB18 ELISA Kits) and a Rab18 (show RAB18 ELISA Kits) GEF complex of Rab3GAP1 (show RAB3GAP1 ELISA Kits) and Rab3GAP2 have roles in the endoplasmic reticulum structure
One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 (show RAB3GAP1 ELISA Kits) in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 (show RAB18 ELISA Kits) in 5% of cases
Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1 (show RAB3GAP1 ELISA Kits), RAB3GAP2 and RAB18 (show RAB18 ELISA Kits). Martsolf syndrome has been associated with a mutation in RAB3GAP2. [Review]
functionally severe RAB3GAP2 mutations cause Warburg Micro syndrome while hypomorphic RAB3GAP2 mutations can result in the milder Martsolf phenotype
Data show that at chemical synapses, Rab3 (show RAB3A ELISA Kits) performs specific functions in synpatic vesicle exocytosis.
KIF1Bbeta- and KIF1A (show KIF1A ELISA Kits)-mediated axonal transport of presynaptic regulator RAB3GAP2 occurs in a GTP (show AK3 ELISA Kits)-dependent manner through MADD (show ETFA ELISA Kits).
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 150 kDa subunit
, Rab3-GAP regulatory subunit
, rab3 GTPase-activating protein non-catalytic subunit
, rab3-GAP p150
, rab3 GTPase-activating protein 150 kDa subunit
, rab3-GAP regulatory subunit