Phosphomannomutase

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Contents 1 Function 2 Disease 3 3D Structures of phosphomannomutase 4 References

Function

Phosphomannomutase (PMM) catalyzes the conversion of α-D-mannose 1-phosphate to D-mannose 6-phosphate. PMM participates in fructose and mannose metabolism.

Disease

Mutations in PMM2 cause carbohydrate-deficient glycoprotein syndrome type 1 (Jaeken syndrome)^[1].

3D Structures of phosphomannomutase

Updated on 29-June-2016

References

1. ↑ Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet. 1997 May;16(1):88-92. PMID:9140401 doi:10.1038/ng0597-88