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: 16p13.3-p13.2 |
Gene position | | 8891670 - 8943194 Map Viewer |
Gene orientation | | plus |
Gene size | | 51525 bp |
Gene sequence |
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OMIM ID | | 601785 |
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