NP_000281.2
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NCBI GenBank Nucleotide #
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UniProt Related Accession #
NCBI Official Full Name
phosphoglycerate mutase 2
NCBI Official Synonym Full Names
phosphoglycerate mutase 2 (muscle)
NCBI Protein Information
phosphoglycerate mutase 2; BPG-dependent PGAM 2; phosphoglycerate mutase isozyme M; muscle-specific phosphoglycerate mutase
UniProt Protein Name
Phosphoglycerate mutase 2
UniProt Synonym Protein Names
BPG-dependent PGAM 2; Muscle-specific phosphoglycerate mutase; Phosphoglycerate mutase isozyme M; PGAM-M
UniProt Synonym Gene Names
UniProt Entry Name
PGAM2_HUMAN
NCBI Summary for PGAM2
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. [provided by RefSeq, Sep 2009]
UniProt Comments for PGAM2
PGAM2: 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) and EC 3.1.3.13 (phosphatase), but with a reduced activity. Defects in PGAM2 are the cause of glycogen storage disease type 10 (GSD10). A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps and excercise intolerance. Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.
Protein type: EC 3.1.3.13; Carbohydrate Metabolism - glycolysis and gluconeogenesis; Isomerase; EC 5.4.2.4; EC 5.4.2.11; Phosphatase (non-protein)
Chromosomal Location of Human Ortholog: 7p13-p12
Cellular Component: nucleus; cytosol
Molecular Function: phosphoglycerate mutase activity; bisphosphoglycerate mutase activity; bisphosphoglycerate phosphatase activity; cofactor binding; 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity
Biological Process: response to mercury ion; striated muscle contraction; glycolysis; dephosphorylation; carbohydrate metabolic process; glucose metabolic process; spermatogenesis; pathogenesis; gluconeogenesis
Disease: Glycogen Storage Disease X
Research Articles on PGAM2
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Products associated with anti-PGAM2 antibody
Pathways associated with anti-PGAM2 antibody
Diseases associated with anti-PGAM2 antibody
Organs/Tissues associated with anti-PGAM2 antibody
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