NP_001715
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
bisphosphoglycerate mutase
NCBI Official Synonym Full Names
2,3-bisphosphoglycerate mutase
NCBI Official Synonym Symbols
NCBI Protein Information
bisphosphoglycerate mutase
UniProt Protein Name
Bisphosphoglycerate mutase
UniProt Synonym Protein Names
2,3-bisphosphoglycerate mutase, erythrocyte; 2,3-bisphosphoglycerate synthase (EC:3.1.3.13, EC:5.4.2.11); 2,3-diphosphoglycerate mutase; DPGM; BPG-dependent PGAM
UniProt Synonym Gene Names
UniProt Entry Name
PMGE_HUMAN
NCBI Summary for BPGM
2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
UniProt Comments for BPGM
BPGM: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3- bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.1) and phosphatase (EC 3.1.3.13) activities. Defects in BPGM are the cause of bisphosphoglycerate mutase deficiency (BPGMD). A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis. Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.
Protein type: Phosphatase (non-protein); EC 5.4.2.11; Isomerase; EC 5.4.2.4; EC 3.1.3.13; Carbohydrate Metabolism - glycolysis and gluconeogenesis
Chromosomal Location of Human Ortholog: 7q33
Molecular Function: phosphoglycerate mutase activity; bisphosphoglycerate mutase activity; bisphosphoglycerate phosphatase activity
Biological Process: erythrocyte development; glycolysis; dephosphorylation; carbohydrate metabolic process; respiratory gaseous exchange
Disease: Bisphosphoglycerate Mutase Deficiency
Research Articles on BPGM
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Products associated with anti-BPGM antibody
Pathways associated with anti-BPGM antibody
Diseases associated with anti-BPGM antibody
Organs/Tissues associated with anti-BPGM antibody
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