PMM2, Official Symbol PMM2provided by HGNC Official Full Name phosphomannomutase 2provided by HGNC Primary source HGNC:HGNC:9115 See related Ensembl:ENSG00000140650 MIM:601785; AllianceGenome:HGNC:9115 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2 Summary The 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, Jul 2008] Expression Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues See more Orthologs mouse all