Harman Patil (Editor)

PMM2

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Species
  
Human

Entrez
  
5373

Human
  
Mouse

Ensembl
  
ENSG00000140650

PMM2

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