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RAB3GAP1 encodes the catalytic subunit of a Rab GTPase activating protein. Additionally we are shipping RAB3 GTPase Activating Protein Subunit 1 (Catalytic) Antibodies (25) and many more products for this protein.
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Rb and p130 have overlapping roles in maintaining the postmitotic state of adult cardiac myocytes through their interaction with HP1-gamma (show CBX3 Proteins) to direct heterochromatin formation and silencing of proliferation-promoting genes
The histological and physiological cochlear phenotype in p130-/- mice suggests a role for p130-mediated SC quiescence in the apical and upper middle turns of the cochlea.
sequencing of RAB3GAP1 revealed novel compound heterozygous mutations in the siblings: a paternally inherited missense mutation (c.560G>C; p.Arg187Pro) in exon 7 and a maternally derived nonsense mutation (c.1009C>T; p.Arg337Ter) in exon 12.
Warburg Micro syndrome is caused by RAB3GAP deficiency.
RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 (show RAB3A Proteins) GTPase activating protein (show RASA1 Proteins) (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment
A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1.
The stage catalyzed by Rab3 (show RAB3A Proteins) is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3 (show RAB3A Proteins), the pathways became independent.
Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure
Our findings suggest that RAB3GAP1 and ZNF365 (show ZNF365 Proteins) are relevant candidate genes for SCD (show SCD Proteins) and will contribute to the mechanistic understanding of SCD (show SCD Proteins) susceptibility.
One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 (show RAB18 Proteins) in 5% of cases
This replication and meta-analysis study showed that genetic variation upstream of the RAB3GAP1 gene is highly likely to be a contributor to the genetic risk of keratoconus development.
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates 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.
RAB3 GTPase-activating protein 130 kDa subunit
, rab3 GTPase-activating protein catalytic subunit
, rab3-GAP p130