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BPG dependent PGAM 2
BPG-dependent PGAM 2
Muscle specific phosphoglycerate mutase
Muscle-specific phosphoglycerate mutase
Phosphoglycerate mutase 2
phosphoglycerate mutase 2 (muscle)
Phosphoglycerate mutase isozyme M
機能Interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the reaction of EC 188.8.131.52 (synthase) and EC 184.108.40.206 (phosphatase), but with a reduced activity.
組織特異性In mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues.
関連疾患Defects in PGAM2 are the cause of glycogen storage disease type 10 (GSD10) [MIM:261670]. A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps and excercise intolerance.
配列類似性Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.