|Application ||WB, E|
|Calculated MW||32261 Da|
|Other Names||Cone-rod homeobox protein, CRX, CORD2|
|Target/Specificity||CRX (NP_000545, 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||CRX Antibody (monoclonal) (M04) is for research use only and not for use in diagnostic or therapeutic procedures.|
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The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined.
Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa. Clark GR, et al. Ophthalmology, 2010 Jun 28. PMID 20591486.CRX is a diagnostic marker of retinal and pineal lineage tumors. Santagata S, et al. PLoS One, 2009 Nov 20. PMID 19936203.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.Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. Sundaresan P, et al. Mol Vis, 2009 Sep 4. PMID 19753312.Differential CRX and OTX2 expression in human retina and retinoblastoma. Glubrecht DD, et al. J Neurochem, 2009 Oct. PMID 19686387.
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