功能Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 188.8.131.52) and phosphatase (EC 184.108.40.206) activities.
疾病相关Defects in BPGM are the cause of bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]. A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.
序列相似性Belongs to the phosphoglycerate mutase family. BPG-dependent PGAM subfamily.
翻译后修饰Glycation of Lys-159 in diabetic patients inactivates the enzyme.