PMM2

Name

phosphomannomutase 2

Type

protein-coding

Aliases

CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2

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].

via MyGene.info

Wikidata facts

Image

Protein PMM2 PDB 2amy.png

via Wikidata · CC0