Phosphomannomutase 2 (PMM2)

Phosphomannomutase 2 is a cytoplasmic enzyme, encoded by the PMM2 gene, that catalyzes the interconversion of mannose-6-phosphate to mannose-1-phosphate, a key step in the glycosylation pathway which is critical for the proper attachment of sugar chains (N-glycans) to proteins. This process is essential for the formation of dolichol-P-oligosaccharides used in N-linked protein glycosylation. Mutations in the PMM2 gene result in reduced enzyme activity and can cause congenital disorder of glycosylation type Ia (PMM2-CDG), which features developmental disabilities, hypotonia, fat distribution abnormalities, and other multi-organ symptoms. PMM2 is a member of the haloalkanoate dehalogenase superfamily and is essential for normal cellular and tissue development

Other names

PMM2CDG1CDG1aCDGSPMIPMI1phosphomannomutase 2phosphomannose isomerase 1mannose-6-phosphate isomerasecongenital disorder of glycosylation type IaJaeken syndromecarbohydrate-deficient glycoprotein syndrome type 1a