PMM2( Human )

Entrez Gene 5373 Entrez Gene 5373
phosphomannomutase 2

Alias

CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2

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].

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