background:
BPGM (2,3-bisphosphoglycerate mutase) is a 259 amino acid protein that belongs to the phosphoglycerate mutase family and exists as a homodimer that plays a crucial role in the regulation of hemoglobin oxygen. Specifically, BPGM catalyzes the conversion of 3-phospho-D-glyceroyl phosphate to 2,3-bisphospho-D-glycerate (2,3-BPG), a reaction that is essential for controlling the concentration of 2,3-BPG within the cell. The gene encoding BPGM maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome.
Involvement in disease:
Defects in BPGM are the cause of bisphosphoglycerate mutase deficiency (BPGMD) . A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.
Function:
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.
Subunit:
Homodimer.
Tissue Specificity:
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).
Post-translational modifications:
Glycation of Lys-159 in diabetic patients inactivates the enzyme.
DISEASE:
Defects in BPGM are the cause of bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]. A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.
Similarity:
Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
Database links:
Entrez Gene: 669 Human
Entrez Gene: 12183 Mouse
Entrez Gene: 100009096 Rabbit
Entrez Gene: 296973 Rat
Omim: 222800 Human
SwissProt: Q3T014 Cow
SwissProt: P07738 Human
SwissProt: P15327 Mouse
SwissProt: P07952 Rabbit
Unigene: 198365 Human
Unigene: 282863 Mouse
Unigene: 204528 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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