Home > Product > Antibody > Rabbit Anti-RAB3GAP1/FITC Conjugated antibody
DKFZp434A012; KIAA0066; P130; Rab3 GAP; Rab3 GAP p130; RAB3 GTPase activating protein 130 kDa subunit; Rab3 GTPase activating protein catalytic subunit; RAB3GAP; RAB3GAP130; WARBM1; RB3GP_HUMAN.
Cat:
SL11938R-FITC
Species Reactivity:
(predicted: Human,Mouse,Rat,Rabbit,)
Immunogen:
KLH conjugated synthetic peptide derived from human RAB3GAP1
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
110kDa
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Unit:
Price: $
Product PDFs
Datasheet:


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.

Function:
RAB3GAP1 is a member of the RAB3 protein family which are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit. RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005 [PubMed 15696165].

Subunit:
The Rab3 GTPase-activating complex is a heterodimer composed of RAB3GAP and RAB3-GAP150. The Rab3 GTPase-activating complex interacts with DMXL2

Subcellular Location:
Cytoplasm. Note=In neurons, it is enriched in the synaptic soluble fraction.

Tissue Specificity:
Ubiquitous.

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.

Similarity:
Belongs to the Rab3-GAP catalytic subunit family.

Database links:

Entrez Gene: 22930 Human

Omim: 602536 Human

SwissProt: Q15042 Human

Unigene: 306327 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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