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MGP002261

UniProt Annotations

Entry Information
Gene Namephosphoglycerate mutase 2 (muscle)
Protein EntryPGAM2_HUMAN
UniProt IDP15259
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity2,3-bisphospho-D-glycerate + H(2)O = 3- phospho-D-glycerate + phosphate.
Catalytic Activity2-phospho-D-glycerate = 3-phospho-D-glycerate.
Catalytic Activity3-phospho-D-glyceroyl phosphate = 2,3- bisphospho-D-glycerate.
DiseaseGlycogen storage disease 10 (GSD10) [MIM:261670]: A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. {ECO:0000269|PubMed:10545043, ECO:0000269|PubMed:8447317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInterconversion 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) and EC 3.1.3.13 (phosphatase), but with a reduced activity.
SimilarityBelongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily. {ECO:0000305}.
SubunitHomodimer.
Tissue SpecificityIn mammalian tissues there are two types of phosphoglycerate mutase isozymes: type-M in muscles and type-B in other tissues.
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