BPGM, Official Symbol BPGMprovided by HGNC Official Full Name bisphosphoglycerate mutaseprovided by HGNC Primary source HGNC:HGNC:1093 See related Ensembl:ENSG00000172331 MIM:613896; AllianceGenome:HGNC:1093 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DPGM; ECYT8 Summary 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] Expression Broad expression in bone marrow (RPKM 22.0), placenta (RPKM 21.2) and 24 other tissues See more Orthologs mouse all