Phosphoglycerate mutase 2 (PGAM2)

Phosphoglycerate mutase 2 (PGAM2) is a muscle-specific glycolytic enzyme responsible for catalyzing the reversible conversion of 3-phosphoglycerate to 2-phosphoglycerate, a key step in glycolysis[1][2][3][4]. It functions as a homodimer in skeletal muscle, though heterodimers with the brain isoform (PGAM1) are also possible. Mutations in PGAM2 cause muscle phosphoglycerate mutase deficiency, also called Glycogen storage disease X (GSD10), which manifests as muscle cramps and breakdown due to impaired energy production in muscle. Recent research also shows that PGAM2 can translocate to the nucleus (nucleolus) where it may help stabilize nucleolar structure, participate in mRNA transcriptional regulation, and assist in ribosomal assembly, with import regulated by insulin/IGF1-PI3K-AKT-mTOR signaling and interaction with 14-3-3 proteins[2].

Other names

BPG-dependent PGAM 2Muscle-specific phosphoglycerate mutasePhosphoglycerate mutase isozyme MGSD10PGAM-MPGAMMphosphoglycerate mutase 2 (muscle)

Enzyme inhibition or genetic loss results in reduced glycolytic flux and impaired energy supply to muscle tissue[1][4].