Background information
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-D-glyceroyl phosphate to 2,3-bisD-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.
