PMM2 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant PMM2.
|Application ||WB, E|
|Calculated MW||28082 Da|
|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.|
|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.|
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Provided below are standard protocols that you may find useful for product applications.
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.
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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