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
Number of entries/variants: 0
Sequence Viewer
Publications / Origin
- 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 PubMed
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2020-05-07 15:37:26 | The IthaGenes Curation Team | Created |