Immunogen sequence: EGAWNKENRF CSWVDQKLNS EGMEEARNCG KQLKALNFEF DLVFTSVLNR SIHTAWLILE ELGQEWVPVE SSWRLNERHY GALIGLNREQ MALNHGEEQV
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]
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Protein Aliases: 2,3-bisphosphoglycerate mutase; 2,3-bisphosphoglycerate mutase, erythrocyte; 2,3-bisphosphoglycerate synthase; 2,3-diphosphoglycerate mutase; Bisphosphoglycerate mutase; BPG-dependent PGAM; BPGM; DPGM; erythrocyte 2,3-bisphosphoglycerate mutase; testis secretory sperm-binding protein Li 202a
Gene Aliases: BPGM; DPGM
UniProt ID: (Human) P07738
Entrez Gene ID: (Human) 669