Gene Symbol | MPI |
Entrez Gene ID | 4351 |
Full Name | mannose phosphate isomerase |
Synonyms | CDG1B,PMI,PMI1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jan 2014]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type Ib, 602579 (3) |