POMGNT1 Antibody (monoclonal) (M07)
Mouse monoclonal antibody raised against a partial recombinant POMGNT1.
- 产品详情
- 实验流程
- 背景知识
Application
| WB, IHC |
|---|---|
| Primary Accession | Q8WZA1 |
| Other Accession | NM_017739 |
| Reactivity | Human |
| Host | mouse |
| Clonality | monoclonal |
| Isotype | IgG2a Kappa |
| Clone Names | 6C12 |
| Calculated MW | 75252 Da |
| Gene ID | 55624 |
|---|---|
| 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. |
| Dilution | WB~~1:500~1000 IHC~~1:100~500 |
| 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. |
For Research Use Only. Not For Use In Diagnostic Procedures.
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
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.
REFERENCES
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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