Aliases for PGAM2 Gene
External Ids for PGAM2 Gene
Previous GeneCards Identifiers for PGAM2 Gene
Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
GeneCards Summary for PGAM2 Gene
PGAM2 (Phosphoglycerate Mutase 2) is a Protein Coding gene. Diseases associated with PGAM2 include glycogen storage disease x and glycogen storage disease due to phosphoglycerate mutase deficiency. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include cofactor binding and bisphosphoglycerate mutase activity. An important paralog of this gene is PGAM4.
UniProtKB/Swiss-Prot for PGAM2 Gene
Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 18.104.22.168 (synthase) and EC 22.214.171.124 (phosphatase), but with a reduced activity.