RAB3 GTPase-Activating Protein, Catalytic Subunit

Alternative Names

  • RAB3GAP1
  • RAB3GAP
  • RAB3GAP, 130-KD Subunit
  • RAB3GAP, Catalytic Subunit
  • p130
  • WARBM1 Gene
  • KIAA0066

Associated Diseases

Warburg Micro Syndrome 1
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OMIM Number

602536

Gene Map Locus
2q21.3

Description

The RAB3GAP1 gene encodes a protein, which has a specificity for the members of the RAB3 protein family, and catalyzes the conversion of the active RAB3-GTP protein to its inactive RAB3-GDP form. The RAB proteins are prime regulators of membrane transport in both the exocytic and endocytic pathways, and are believed to participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and nonsynaptic vesicular release of neurotransmitters. The main function of the RAB3GAP1 protein, therefore, is in the regulated exocytosis of neurotransmitters and hormones. The gene plays a very important role in normal eye and brain development.

Mutations in the RAB3GAP1 gene have been implicated in Warburg micro syndrome, characterized by neurodevelopmental and ocular defects. It is postulated that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors, due to the loss of function of the RAB3GAP1 gene.

Molecular Genetics

The RAB3GAP1 gene has been mapped to gene locus 2q21.3, and has been found to contain 24 exons. The catalytic subunit encoded by this gene forms a complex with the non-catalytic RAB3GAP150 (150 KDa) subunit, coded for by a different gene on chromosome 1. The catalytic activity of the RAB3GAP1 protein is localized in the C-Terminal region, and therefore, almost all mutations in the gene affect the catalytic activity.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001172435.2:c.2011C>TLebanonchr2:135150456PathogenicWarburg Micro Syndrome 1NG_016972.1:g.103192C>T; NM_001172435.2:c.2011C>T; NP_001165906.1:p.Arg671Ter1378530527059
NM_001172435.2:c.475_478delMorocco2:135113263PathogenicWarburg Micro Syndrome 1NG_016972.1:g.65999_66002del ; NM_001172435.2:c.475_478del; NP_001165906.1:p.Thr159fs 886043202285764
NM_001172435.2:c.52A>CMoroccochr2:135052463PathogenicNG_016972.1:g.5199A>C; NM_001172435.2:c.52A>C; NP_001165906.1:p.Thr18Pro587777154100771
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