POMGNT1 Antibody (monoclonal) (M07)
Mouse monoclonal antibody raised against a partial recombinant POMGNT1.
|Application ||WB, IHC|
|Calculated MW||75252 Da|
|Other Names||Protein O-linked-mannose beta-1, 2-N-acetylglucosaminyltransferase 1, POMGnT1, 241-, UDP-GlcNAc:alpha-D-mannoside beta-1, 2-N-acetylglucosaminyltransferase I2, GnT I2, POMGNT1, MGAT12|
|Target/Specificity||POMGNT1 (NP_060209, 221 a.a. ~ 318 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||POMGNT1 Antibody (monoclonal) (M07) 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 type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Mercuri E, et al. Neurology, 2009 May 26. PMID 19299310.Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. Hehr U, et al. Neurogenetics, 2007 Nov. PMID 17906881.Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. Teber S, et al. Eur J Paediatr Neurol, 2008 Mar. PMID 17881266.Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Godfrey C, et al. Brain, 2007 Oct. PMID 17878207.Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Manya H, et al. Neuromuscul Disord, 2008 Jan. PMID 17869517.
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