| Entrez gene ID | | 5373 |
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| Official gene symbol | | PMM2 |
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| Full name | | phosphomannomutase 2 |
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| Aliases | | ,CDG1,CDG1a,CDGS, |
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| 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] |
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| Location | | Chromosome: 16 Locus: 16p13.3-p13.2 |
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| Gene position | | 8891670 - 8943194 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 51525 bp |
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| Gene sequence |
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| OMIM ID | | 601785 |
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