Recombinant Human Rab3 GTPase-activating protein catalytic subunit (RAB3GAP1), partial

1. 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*). PMID: 27256633
2. show that FOXC1 regulates the expression of RAB3GAP1, RAB3GAP2 and SNAP25 PMID: 28575017
3. RAB18 modulates macroautophagy and proteostasis, and is dependent on activity of RAB3GAP1 and RAB3GAP2. PMID: 28342870
4. Homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). PMID: 26138576
5. 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. PMID: 26421802
6. Warburg Micro syndrome is caused by RAB3GAP deficiency. PMID: 26063829
7. RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy PMID: 25495476
8. results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment PMID: 25612670
9. A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1. PMID: 25332050
10. The stage catalyzed by Rab3 is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3, the pathways became independent. PMID: 25159528
11. Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure PMID: 24891604
12. 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 in 5% of cases PMID: 23420520
13. 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. PMID: 23833071
14. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2.[Review] PMID: 23176487
15. The RAB3GAP gene encodes a protein which is a key regulator of the Rab3 pathway implicated in exocytic release of ocular and neurodevleopmental trophic factors. PMID: 22876574
16. Mutation in RAB3GAP1 is associated with warburg micro syndrome. PMID: 22768674
17. study found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds PMID: 20512159
18. RAB3GAP1 has been shown to cause Micro syndrome. PMID: 18286824

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HGNC: 17063

OMIM: 600118

KEGG: hsa:22930

STRING: 9606.ENSP00000411418

UniGene: Hs.306327