GeneID: 376


Names

Common Name: DPGM Type: Gene
Chromosome: 7 (NC_000007.14) Locus: NG_012921.1 (BPGM)
HUGO Symbol: BPGM Full Name: bisphosphoglycerate mutase
Exons: 4 Introns: 3

Description:
The BPGM gene encodes a multifunctional enzyme that catalyzes 2,3-diphosphoglycerate (2,3-DPG) synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. 2,3-DPG is a small molecule found at high concentrations in red blood cells (RBCs) where it binds to and decreases the oxygen affinity of haemoglobin (Hb). BPGM plays a major role in regulating haemoglobin oxygen affinity by controlling 2,3-DPG levels. 2,3-DPG binds with a greater binding affinity to deoxygenated Hb, thus favoring polymerization of deoxy-HbS. In addition, increased 2,3-DPG concentration decreases intracellular pH in RBCs, which further promotes HbS polymerization. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in haemolytic anaemia.

Synonyms: ECYT8

Comments:
N/A

Publications / Origin

  1. Garel MC, Arous N, Calvin MC, Craescu CT, Rosa J, Rosa R, A recombinant bisphosphoglycerate mutase variant with acid phosphatase homology degrades 2,3-diphosphoglycerate., Proc. Natl. Acad. Sci. U.S.A., 91(9), 3593-7, 1994
Created on 2020-05-07 15:37:26, Last reviewed on (Show full history)


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