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 (Muscle)) is a Protein Coding gene. Diseases associated with PGAM2 include glycogen storage disease x and phosphoglycerate mutase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include cofactor binding and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM1.
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 184.108.40.206 (synthase) and EC 220.127.116.11 (phosphatase), but with a reduced activity