Recombinant Human Bisphosphoglycerate mutase (BPGM)

Uniprot Id

P07738

Target Species

Human

Target Name

BPGM

Target Full Name

Bisphosphoglycerate mutase

Target Function

Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.

Target Involvement

Bisphosphoglycerate mutase deficiency (BPGMD)

Target Protein Families

Phosphoglycerate mutase family, BPG-dependent PGAM subfamily

Target Tissue Specificity

Expressed in red blood cells. Expressed in non-erythroid cells of the placenta; present in the syncytiotrophoblast layer of the placental villi at the feto-maternal interface (at protein level).

Target Research Area

Signal Transduction

Target Synonyms

2; 2,3-bisphosphoglycerate mutase; 2,3-bisphosphoglycerate mutase, erythrocyte; 2,3-bisphosphoglycerate synthase; 2,3-diphosphoglycerate mutase; 3-bisphosphoglycerate mutase; 3-bisphosphoglycerate synthase; 3-diphosphoglycerate mutase; Ab2 098; AI323730; AL022789; Bisphosphoglycerate mutase; BPG dependent PGAM; BPG-dependent PGAM; Bpgm; C86192; DPGM; Erythrocyte 2,3 bisphosphoglycerate mutase; erythrocyte; PMGE_HUMAN

Target Background

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.