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pmm2

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Official Full Name
phosphomannomutase 2
Background
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.
Synonyms
PMM2; phosphomannomutase 2; CDG1; CDG1a; CDGS; AI585868; BOS_22465; C86848; CDG 1; MGC127449; PMM 2; OTTHUMP00000160109; PMI, CDG1, CDGS, PMI1, CDG1a, PMM 2; cb626; zgc:56149

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