RLBP1 Antibody (monoclonal) (M02)
Mouse monoclonal antibody raised against a full length recombinant RLBP1.
|Application ||WB, IF, E|
|Calculated MW||36474 Da|
|Other Names||Retinaldehyde-binding protein 1, Cellular retinaldehyde-binding protein, RLBP1, CRALBP|
|Target/Specificity||RLBP1 (AAH04199, 1 a.a. ~ 317 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||RLBP1 Antibody (monoclonal) (M02) 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 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens.
Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation. Burstedt MS, et al. Arch Ophthalmol, 2010 Aug. PMID 20696998.Development of a Diagnostic Genetic Test for Simplex and Autosomal Recessive Retinitis Pigmentosa. Clark GR, et al. Ophthalmology, 2010 Jun 28. PMID 20591486.Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. He X, et al. Proc Natl Acad Sci U S A, 2009 Nov 3. PMID 19846785.Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. Martins-de-Souza D, et al. Eur Arch Psychiatry Clin Neurosci, 2009 Apr. PMID 19165527.Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. K?hn L, et al. Invest Ophthalmol Vis Sci, 2008 Jul. PMID 18344446.
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