Description
Mannose-6 phosphate isomerase (MPI), alternately phosphomannose isomerase (PMI), is an enzyme which facilitates the interconversion of fructose 6-phosphate(F6P) and mannose-6-phosphate(M6P). It also plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. This MPI gene is mapped to 15q24.1