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PMM2

Official Full Name
phosphomannomutase 2
Organism
Homo sapiens
GeneID
5373
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. [provided by RefSeq, Jul 2008]
Synonyms
PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2;

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