OPHN1 Antibody (monoclonal) (M03)
Mouse monoclonal antibody raised against a partial recombinant OPHN1.
|Application ||WB, E|
|Calculated MW||91641 Da|
|Other Names||Oligophrenin-1, OPHN1|
|Target/Specificity||OPHN1 (NP_002538, 641 a.a. ~ 734 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||OPHN1 Antibody (monoclonal) (M03) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism.
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Piton A, et al. Mol Psychiatry, 2010 May 18. PMID 20479760.Mutation of ARHGAP9 in patients with coronary spastic angina. Takefuji M, et al. J Hum Genet, 2010 Jan. PMID 19911011.[Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.] Zhang LJ, et al. Yi Chuan, 2008 Oct. PMID 18930891.Deletion of the OPHN1 gene detected by aCGH. Madrigal I, et al. J Intellect Disabil Res, 2008 Mar. PMID 18261018.Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348.
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