Entrez gene ID | | 5224 |
Official gene symbol | | PGAM2 |
Full name | | phosphoglycerate mutase 2 (muscle) |
Aliases | | ,GSD10,MGC88743,PGAM-M,PGAMM, |
Gene summary | | 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] |
Location | | Chromosome: 7 Locus: 7p13-p12 |
Gene position | | 44105186 - 44102326 Map Viewer |
Gene orientation | | minus |
Gene size | | 2861 bp |
Gene sequence |
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OMIM ID | | 612931 |
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