SAB4501078
Anti-RAB3GAP2 antibody produced in rabbit
affinity isolated antibody
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All Photos(2)
Synonym(s):
RAB3-GAP150, RGAP-iso, Rab3 GTPase-activating protein 150 kDa subunit, Rab3-GAP p150, Rab3-GAP regulatory subunit
UNSPSC Code:
12352203
NACRES:
NA.41
biological source
rabbit
Quality Level
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous solution
mol wt
antigen 155 kDa
species reactivity
mouse, human, rat
concentration
~1 mg/mL
technique(s)
ELISA: 1:40000
immunohistochemistry: 1:50-1:100
western blot: 1:500-1:1000
NCBI accession no.
UniProt accession no.
shipped in
wet ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... RAB3GAP2(25782)
General description
Anti-RAB3GAP2 Antibody detects endogenous levels of total RAB3GAP2 protein. RAB3 GTPase activating non-catalytic protein subunit 2 (RAB3GAP2) is the non-catalytic subunit of RAB3 GTPase activating protein (RAB3GAP). The gene encoding it is localized on human chromosome 1q41.
Immunogen
The antiserum was produced against synthesized peptide derived from human RAB3GAP2.
Immunogen Range: 417-466
Immunogen Range: 417-466
Biochem/physiol Actions
RAB3 GTPase activating non-catalytic protein subunit 2 (RAB3GAP2) may have a role in neurodevelopment. Mutations in the gene encoding it have been associated with Warburg Micro syndrome.
Features and Benefits
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Physical form
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
wgk_germany
nwg
flash_point_f
Not applicable
flash_point_c
Not applicable
Certificates of Analysis (COA)
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Irene A Aligianis et al.
American journal of human genetics, 78(4), 702-707 (2006-03-15)
We identified a homozygous missense mutation in the noncatalytic subunit (RAB3GAP2) of RAB3GAP that results in abnormal splicing in a family with congenital cataracts, hypogonadism, and mild mental retardation (Martsolf syndrome). Recently, mutations in the catalytic subunit of RAB3GAP (RAB3GAP1)
Guntram Borck et al.
Human genetics, 129(1), 45-50 (2010-10-23)
Warburg Micro syndrome and Martsolf syndrome are clinically overlapping autosomal recessive conditions characterized by congenital cataracts, microphthalmia, postnatal microcephaly, and developmental delay. The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe
Danai Bem et al.
American journal of human genetics, 88(4), 499-507 (2011-04-09)
Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these syndromes implicated dysregulation of the RAB3 cycle (which controls calcium-mediated exocytosis
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