PMM2 Antibody (monoclonal) (M02)

O15305

WB

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.

5373

Mouse monoclonal antibody raised against a full-length recombinant PMM2.

Antibody Reactive Against Recombinant Protein.Western Blot detection against Immunogen (52.8 KDa) .

1:500~1000

WB

BC008310

Human: ~~ Positive

NP_000294.1

AAH08310

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. [provided by RefSeq