Aliases for PMM1 Gene
External Ids for PMM1 Gene
Previous GeneCards Identifiers for PMM1 Gene
Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
GeneCards Summary for PMM1 Gene
PMM1 (Phosphomannomutase 1) is a Protein Coding gene. Diseases associated with PMM1 include Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Fructose and mannose metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphomannomutase activity. An important paralog of this gene is PMM2.
UniProtKB/Swiss-Prot for PMM1 Gene
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain.