BPGM gene

bisphosphoglycerate mutase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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) activity.

From NCBI Gene:

  • Deficiency of bisphosphoglycerate mutase

From UniProt:

Bisphosphoglycerate mutase deficiency (BPGMD): A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis. [MIM:222800]

Cytogenetic Location: 7q33, which is the long (q) arm of chromosome 7 at position 33

Molecular Location: base pairs 134,646,779 to 134,679,816 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q33, which is the long (q) arm of chromosome 7 at position 33