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]
Subcellular localization of MPI (and its protein):
Gene Ontology (GO) terms for MPI:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 51 Fructose and mannose metabolism [PATH:hsa00051] |
| 520 Amino sugar and nucleotide sugar metabolism [PATH:hsa00520] |
| Name |
|---|
| Asparagine N-linked glycosylation |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein |
| Metabolism of proteins |
| Post-translational protein modification |
| Synthesis of GDP-mannose |
| Synthesis of substrates in N-glycan biosythesis |
| Disease | Score | NofPmids | NofSnps | Source |
| Congenital disorder of glycosylation type 1B | 0.482442977 | 13 | 5 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Congenital Disorders of Glycosylation | 0.002714419 | 10 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.002367032 | 1 | 0 | GAD |
| Infection by Cryptococcus neoformans | 0.000271442 | 1 | 0 | BeFree |
| Hypoglycemia | 0.000271442 | 1 | 0 | BeFree |
| Pterygium | 0.000271442 | 1 | 0 | BeFree |
| NEUROTICISM | 0.000271442 | 1 | 0 | BeFree |
| Oropharynx (excludes nasopharynx) | 0.000271442 | 1 | 0 | BeFree |
| Recurrent pterygium | 0.000271442 | 1 | 0 | BeFree |
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is | 0.000271442 | 1 | 0 | BeFree |
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