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Description
RAB3GAP1, is a 981 amino acid protein that belongs to the Rab3-GAP catalytic subunit family. Rab 3 GAP p130 converts active RAB3-GTP to the inactive form RAB3-GDP, and is required for normal eye and brain development. Defects in Rab 3 GAP p130 are the cause of Warburg micro syndrome 1 (WARBM1). WARBM1 is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. The Rab 3 GAP p130 protein may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.
Specifications
Specifications
| Antigen | RAB3GAP1 |
| Applications | Immunohistochemistry (Paraffin), Western Blot |
| Classification | Monoclonal |
| Clone | 4A3A1 |
| Concentration | 1 mg/mL |
| Conjugate | Unconjugated |
| Formulation | PBS with 50% glycerol and 0.1% sodium azide; pH 7.3 |
| Gene | RAB3GAP1 |
| Gene Accession No. | P69735, Q15042, Q80UJ7 |
| Gene Alias | DKFZp434A012, KIAA0066, P130, Rab3 GAP, Rab3 GAP p130, RAB3GAP, RAB3GAP1, RAB3GAP130, WARBM1 |
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Product Title
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