PMM2 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant PMM2.
- 产品详情
- 实验流程
- 背景知识
Application ![]()
| WB, E |
---|---|
Primary Accession | O15305 |
Other Accession | NM_000303 |
Reactivity | Human |
Host | mouse |
Clonality | monoclonal |
Isotype | IgG2b Kappa |
Clone Names | 2E10 |
Calculated MW | 28082 Da |
Gene ID | 5373 |
---|---|
Other Names | Phosphomannomutase 2, PMM 2, PMM2 |
Target/Specificity | PMM2 (NP_000294, 47 a.a. ~ 111 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. |
Dilution | WB~~1:500~1000 E~~N/A |
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 | PMM2 Antibody (monoclonal) (M01) 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 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.
REFERENCES
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Vega AI, et al. Hum Mutat, 2009 May. PMID 19235233.Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Coman D, et al. Am J Med Genet A, 2008 Feb 1. PMID 18203160.Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. Vermeer S, et al. J Neurol, 2007 Oct. PMID 17694350.Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. Coman D, et al. J Clin Neurosci, 2007 Jul. PMID 17451957.Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Schollen E, et al. Mol Genet Metab, 2007 Apr. PMID 17307006.

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