Entrez 5373 | Ensembl ENSG00000140650 | |
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Aliases PMM2, CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2, phosphomannomutase 2 External IDs MGI: 1859214 HomoloGene: 257 GeneCards: PMM2 |
Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene.
Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as congenital disorder of glycosylation type Ia.
References
PMM2 Wikipedia(Text) CC BY-SA