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Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and 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.
Gene Name: | mannose phosphate isomerase |
Synonyms: | MPI, CDG1B, Mannose phosphate isomerase, Mannose-6- phosphate isomerase, Mannose-6-phosphate isomerase, Phosphohexomutase, Phosphomannose isomerase 1, Phosphomannose isomerase, PMI, PMI1 |
Target Sequences: | NM_002435 NP_002426.1 P34949 |
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