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Merck
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SAB4501078

Anti-RAB3GAP2 antibody produced in rabbit

affinity isolated antibody

Synonym(s):

RAB3-GAP150, RGAP-iso, Rab3 GTPase-activating protein 150 kDa subunit, Rab3-GAP p150, Rab3-GAP regulatory subunit

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

Key Documents

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biological source

rabbit

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.

Q9H2M9

UniProt accession no.

Q9H2M9

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

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.

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Storage Class Code

10 - Combustible liquids

WGK

nwg

Flash Point(F)

Not applicable

Flash Point(C)

Not applicable

Regulatory Information

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Certificates of Analysis (COA)

Lot/Batch Number
3118125

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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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