BPGM Chromosome 7
Bisphosphoglycerate mutase
Upload your DNA to see your personal genotypes for variants in BPGM.
What This Gene Does
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]
Gene Info
Gene Group
"Phosphoglycerate mutases|Bisphosphoglycerate phosphatases"
Locus Type
gene with protein product
Location
7q33
Ensembl
ENSG00000172331
Associated Conditions (1)
Deficiency of bisphosphoglycerate mutase
Key Variants
RS563099936
Conflicting classifications of pathogenicity
Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
Health Risk
RS121964925
Pathogenic
Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
Health Risk
RS751972865
Pathogenic
Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
Health Risk
RS781222092
Pathogenic
Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
Health Risk
RS786205092
Pathogenic
Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS563099936 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase |
| RS121964925 | Health Risk | Pathogenic | Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase |
| RS751972865 | Health Risk | Pathogenic | Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase |
| RS781222092 | Health Risk | Pathogenic | Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase |
| RS786205092 | Health Risk | Pathogenic | Deficiency of bisphosphoglycerate mutase, Deficiency of bisphosphoglycerate mutase |