Mouse PMM2 Monoclonal Antibody | anti-PMM2 antibody
PMM2 (phosphomannomutase 2, CDG1, CDG1a, CDGS) (AP)
NCBI and Uniprot Product Information
NCBI Description
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, Jul 2008]