FAQ

RAB3GAP1 gene

Known as: RAB3GAP, 130-KD SUBUNIT, RAB3 GTPase activating protein catalytic subunit 1, RAB3GAP, CATALYTIC SUBUNIT 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2016
012320052016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
BACKGROUND Warburg Micro syndrome (WARBM) is a rare autosomal recessive disease characterized by postnatal growth retardation… (More)
  • table 1
  • figure 1
Is this relevant?
2016
2016
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.
We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects… (More)
Is this relevant?
2015
2015
A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).
We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2015
2015
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder… (More)
Is this relevant?
2014
2014
RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
Macroautophagy is a degradative pathway that sequesters and transports cytosolic cargo in autophagosomes to lysosomes, and its… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2014
2014
VAP-B binds to Rab3GAP1 at the ER: its implication in nuclear envelope formation through the ER-Golgi intermediate compartment.
The vesicle-associated membrane protein-associated protein B (VAP-B) is a tail-anchored protein in the endoplasmic reticulum (ER… (More)
Is this relevant?
2013
2013
Rab3Gap1 mediates exocytosis of Claudin-1 and tight junction formation during epidermal barrier acquisition
Epidermal barrier acquisition during late murine gestation is accompanied by an increase in Akt kinase activity and cJun… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2010
2010
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome
Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by… (More)
  • figure 1
  • table 1
  • figure 2
Is this relevant?
2006
2006
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing… (More)
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye… (More)
  • figure 1
  • table 1
Is this relevant?