Aliases for PMM2 Gene
External Ids for PMM2 Gene
Previous HGNC Symbols for PMM2 Gene
Previous GeneCards Identifiers for PMM2 Gene
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]
GeneCards Summary for PMM2 Gene
PMM2 (Phosphomannomutase 2) is a Protein Coding gene. Diseases associated with PMM2 include Congenital Disorder Of Glycosylation, Type Ia and Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Synthesis of substrates in N-glycan biosythesis and Transport to the Golgi and subsequent modification. GO annotations related to this gene include phosphomannomutase activity. An important paralog of this gene is PMM1.
UniProtKB/Swiss-Prot for PMM2 Gene
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.