Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for PMM2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5373
Official gene symbolPMM2
Full namephosphomannomutase 2
Gene summaryThe protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq]
LocationChromosome: 16   Locus: 
Gene position8891670 - 8943194  Map Viewer
OMIM ID601785