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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PMM2-20-RE | 20 (40 μL) | 200 μL |  |
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| PMM2-20-OR | 20 (40 μL) | 200 μL |  |
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| PMM2-20-GO | 20 (40 μL) | 200 μL |  |
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| PMM2-20-GR | 20 (40 μL) | 200 μL |  |
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| PMM2-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PMM2
Gene Name : Phosphomannomutase 2
Chromosome : CHR 16: 879,781,2-884,933,6
Locus : 16p13.2
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