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PMM2 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.
Gene Name: | phosphomannomutase 2 |
Synonyms: | PMM2, CDG1a, CDGS, CDG1, Phosphomannomutase 2, Phosphomannose isomerase 1, PMM 2, PMI, PMI1 |
Target Sequences: | NM_000303 NP_000294.1 O15305 |
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