The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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.
蛋白别名: mannose-6-phosphate isomerase; Phosphomannomutase 2; phosphomannose isomerase 1; PMM 2
基因别名: AI585868; C86848; CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2; PMM2