Full name: mannose phosphate isomerase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CDG1B; PMI; PMI1

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]

Expression: Ubiquitous expression in duodenum (RPKM 9.9), small intestine (RPKM 9.3) and 25 other tissues

Gene size: 12178bp

Exon count: 8