|Application ||IHC, E|
|Calculated MW||58160 Da|
|Other Names||Homeobox protein ARX, Aristaless-related homeobox, ARX|
|Target/Specificity||ARX (NP_620689, 1 a.a. ~ 95 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||ARX Antibody (monoclonal) (M04) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy.
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). Fullston T, et al. Eur J Hum Genet, 2010 Feb. PMID 19738637.CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Nabbout R, et al. Epilepsy Res, 2009 Nov. PMID 19734009.Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Kitamura K, et al. Hum Mol Genet, 2009 Oct 1. PMID 19605412.A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. Price MG, et al. J Neurosci, 2009 Jul 8. PMID 19587282.[ARX mutations and mental retardation of unknown etiology: three new cases in Spain] Romero-Rubio MT, et al. Rev Neurol, 2008 Dec 16-31. PMID 19085879.
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