RAB3GAP1 Recombinant Mouse mAb
RAB3GAP1 Recombinant Mouse mAb
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- 背景知识
Application
| WB |
|---|---|
| Reactivity | Human |
| Predicted | Mouse |
| Host | Mouse |
| Clonality | Recombinant |
| Physical State | Liquid |
| Isotype | IgG1, Kappa |
| Purity | affinity purified by Protein G |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SUBCELLULAR LOCATION | Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction. |
| SIMILARITY | Belongs to the Rab3-GAP catalytic subunit family. |
| SUBUNIT | The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2 |
| DISEASE | Defects in RAB3GAP1 are the cause of Warburg micro syndrome type 1 (WARBM1) [MIM:600118]. A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab 3 GAP p130, also known as Rab3 GTPase-activating protein catalytic subunit, 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. Existing as two alternatively spliced isoforms, the Rab 3 GAP p130 gene is conserved in chimpanzee, dog, cow, mouse, chicken, zebrafish and fruit fly, and maps to human chromosome 2q21.3. |
| Target/Specificity | Ubiquitous. |
|---|---|
| Dilution | WB=1:500-1000,ICC/IF=1:100-500 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
For Research Use Only. Not For Use In Diagnostic Procedures.
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
Rab3 proteins are involved in regulated exocytosis of neurotransmitters and hormones. Rab 3 GAP p130, also known as Rab3 GTPase-activating protein catalytic subunit, 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. Existing as two alternatively spliced isoforms, the Rab 3 GAP p130 gene is conserved in chimpanzee, dog, cow, mouse, chicken, zebrafish and fruit fly, and maps to human chromosome 2q21.3.
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