靶标：
PMM2
产品别名：
CDG1； CDG1a； CDGS； PMI； PMI1； PMM 2； PMM2； phosphomannomutase 2； phosphomannomutase 2； phosphomannomutase 2； mannose-6-phosphate isomerase； phosphomannose isomerase 1； 磷酸甘露糖变位酶2；
背景信息：
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.
