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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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Additional Contact Details
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BPGM
2,3-bisphosphoglycerate mutase
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.
| Gene Name: | 2,3-bisphosphoglycerate mutase |
| Synonyms: | BPGM, 2,3-diphosphoglycerate mutase, 2,3-bisphosphoglycerate mutase, Bisphosphoglycerate mutase, BPG-dependent PGAM, DPGM |
| Target Sequences: | NM_001724 NP_001715.1 P07738 |
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