基因名:
MPI
产品别名:
CDG1B; PMI; PMI1; MPI; mannose phosphate isomerase; mannose phosphate isomerase; mannose-6-phosphate isomerase; phosphohexomutase; phosphomannose isomerase 1; 甘露糖磷酸异构酶(MPI); 磷酸甘露糖异构酶;
背景信息:
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]