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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.
Gene Name: | phosphoglycerate mutase 2 (muscle) |
Synonyms: | PGAM2, BPG-dependent PGAM 2, GSD10, PGAMM, PGAM-M, Phosphoglycerate mutase 2 |
Target Sequences: | NM_000290 NP_000281.2 P15259 |
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