PGAM2
Function
Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 5.4.2.4 (synthase), but with a reduced activity.
Involvement in disease
Glycogen storage disease 10
GSD10
A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
Tissue Specificity
Expressed in the heart and muscle. Not found in the liver and brain.
Alternative names
PGAMM, PGAM2, Phosphoglycerate mutase 2, BPG-dependent PGAM 2, Muscle-specific phosphoglycerate mutase, Phosphoglycerate mutase isozyme M, PGAM-M