Product Name	RAB3GAP1
Chinese Name	RAB3-GTP酶激活蛋白催化亚单位1抗体
Alias	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.
Research Area	Cell biology  Developmental biology  Neurobiology  G protein signal
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Rabbit, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	110kDa
Cellular localization	cytoplasmic
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human RAB3GAP1: 501-600/981
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	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. SWISS: Q15042 Gene ID: 22930 Database links: Entrez Gene: 22930 Human Omim: 602536 Human SwissProt: Q15042 Human Unigene: 306327 Human

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