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].
Structural highlights
The PMM structure contains a core domain and a cap domain. It is known that in order for the substrate to bind, the cap must dissociate from the core domain and then re-associate to seal the active site from solvent molecules. The active site of PMM is located at the interface of the core and cap domains of the molecule[2].
