BPGM ist ein Gen, das durch das Symbol BPGM kodiert wird. Andere Namen sind: Bisphosphoglycerate mutase; 2,3-bisphosphoglycerate mutase, erythrocyte; 2,3-bisphosphoglycerate synthase; 2,3-diphosphoglycerate mutase; DPGM; BPG-dependent PGAM. BPGM hat eine Masse von 30.01kDa, eine Aminosäurelänge von 259, und ist an Erythrocytosis, familial, 8 beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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 5.4.2.11) activity.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the syncytiotrophoblast layer of the placental villi at the feto-maternal interface (at protein level).
Rolle bei Krankheiten
Erythrocytosis, familial, 8: An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly.
Sequenzähnlichkeiten
Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
Posttranslationale Modifikation
Glycation of Lys-159 in diabetic patients inactivates the enzyme.
