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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.
AI585868; C86848; CDG1; CDG1a; CDGS; mannose-6-phosphate isomerase; phosphomannomutase 2; phosphomannose isomerase 1; PMI; PMI1; PMM 2; Pmm2
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