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PMM2 Antibody (monoclonal) (M02)
Mouse monoclonal antibody raised against a full-length recombinant PMM2.
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB |
|---|---|
| Primary Accession | O15305 |
| Other Accession | BC008310 |
| Reactivity | Human |
| Host | mouse |
| Clonality | Monoclonal |
| Isotype | IgG2b Kappa |
| Clone Names | 2A5 |
| Calculated MW | 28082 Da |
| Gene ID | 5373 |
|---|---|
| Other Names | Phosphomannomutase 2, PMM 2, PMM2 |
| Target/Specificity | PMM2 (AAH08310, 1 a.a. ~ 246 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa. |
| Dilution | WB~~1:500~1000 |
| 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) (M02) is for research use only and not for use in diagnostic or therapeutic procedures. |
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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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