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RAB3GAP1 encodes the catalytic subunit of a Rab GTPase activating protein. De plus, nous expédions RAB3 GTPase Activating Protein Subunit 1 (Catalytic) Anticorps (27) et RAB3 GTPase Activating Protein Subunit 1 (Catalytic) Protéines (4) et beaucoup plus de produits pour cette protéine.
Rb and p130 have overlapping roles in maintaining the postmitotic state of adult cardiac myocytes through their interaction with HP1-gamma (Montrer CBX3 Kits ELISA) 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.
Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*).
show that FOXC1 (Montrer FOXC1 Kits ELISA) regulates the expression of RAB3GAP1, RAB3GAP2 (Montrer RAB3GAP2 Kits ELISA) and SNAP25 (Montrer SNAP25 Kits ELISA)
RAB18 (Montrer RAB18 Kits ELISA) modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2 (Montrer RAB3GAP2 Kits ELISA).
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 (Montrer RAB3GAP2 Kits ELISA) modulate basal and rapamycin-induced autophagy
results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 (Montrer RAB3A Kits ELISA) GTPase activating protein (Montrer RASA1 Kits ELISA) (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 (Montrer RAB3A Kits ELISA) is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3 (Montrer RAB3A Kits ELISA), the pathways became independent.
Rab18 (Montrer RAB18 Kits ELISA) and a Rab18 (Montrer RAB18 Kits ELISA) GEF complex of Rab3GAP1 and Rab3GAP2 (Montrer RAB3GAP2 Kits ELISA) have roles in the endoplasmic reticulum structure
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