NR2E3 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a full length recombinant NR2E3.
|Application ||WB, E|
|Calculated MW||44692 Da|
|Other Names||Photoreceptor-specific nuclear receptor, Nuclear receptor subfamily 2 group E member 3, Retina-specific nuclear receptor, NR2E3, PNR, RNR|
|Target/Specificity||NR2E3 (AAH41421, 1 a.a. ~ 322 a.a) full-length 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||NR2E3 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.
Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa. Clark GR, et al. Ophthalmology, 2010 Jun 28. PMID 20591486.Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X. Khan AO, et al. Arch Ophthalmol, 2010 Mar. PMID 20212206.Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. Yang Y, et al. Invest Ophthalmol Vis Sci, 2010 Apr. PMID 19933183.A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. Kanda A, et al. Mol Vis, 2009 Oct 24. PMID 19898638.Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX. Roduit R, et al. PLoS One, 2009 Oct 12. PMID 19823680.
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