Aliases for MPI Gene
External Ids for MPI Gene
Previous GeneCards Identifiers for MPI Gene
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]
GeneCards Summary for MPI Gene
MPI (Mannose Phosphate Isomerase) is a Protein Coding gene. Diseases associated with MPI include Congenital Disorder Of Glycosylation, Type Ib and Protein-Losing Enteropathy. Among its related pathways are Fructose and mannose metabolism and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include mannose-6-phosphate isomerase activity.
UniProtKB/Swiss-Prot Summary for MPI Gene
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.