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.
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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.
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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.
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)
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
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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