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| Entrez gene ID | 5373 |
| Official gene symbol | PMM2 |
| Full name | phosphomannomutase 2 |
| Aliases | ,CDG1,CDG1a,CDGS, |
| Gene summary | 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] |
| Location | Chromosome: 16 Locus: |
| Gene position | 8891670 - 8943194 Map Viewer |
| OMIM ID | 601785 |