ADP ribosylation factor guanine nucleotide exchange factor 2 (ARFGEF2) possesses a Sec7 domain which is crucial for its activity. This protein is expressed in the brain and the gene encoding it is localized on human chromosome 20.
Specificity
The antibody detects endogenous levels of total ARFGEF2 protein.
Immunogen
Synthetic peptide corresponding to a region derived from internal residues of human ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
Biochem/physiol Actions
ADP ribosylation factor guanine nucleotide exchange factor 2 (ARFGEF2) activates ADP-ribosylation factors (ARFs) by exchanging guanosine diphosphate (GDP) with guanosine triphosphate (GTP). It aids in the release of type I tumor necrosis factor receptor (TNFR1) from human umbilical vein endothelial cells. Mutation in the ARFGEF2 gene has been linked to microcephaly and periventricular heterotopia.
Features and Benefits
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Physical form
Rabbit IgG in pH7.3 PBS, 0.05% NaN3, 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.
Proceedings of the National Academy of Sciences of the United States of America, 109(36), 14464-14469 (2012-08-22)
Brefeldin A-inhibited guanine nucleotide-exchange protein (BIG)2 activates ADP-ribosylation factors, ∼20-kDa GTPase proteins critical for continuity of intracellular vesicular trafficking by accelerating the replacement of ADP-ribosylation factor-bound GDP with GTP. Mechanisms of additional BIG2 function(s) are less clear. Here, the participation
Journal of medical genetics, 50(11), 772-775 (2013-07-03)
West syndrome (WS) is an epileptic encephalopathy of childhood, defined by the presence of clustered spasms usually occurring before the age of 1 year, hypsarrhythmia on EEG that is notoriously difficult to define, and developmental arrest or regression. The incidence
We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited knowledge about the phenotype. The brain MRI
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