Disease-gene associations mined from literature

Literature associating BPGM and familial erythrocytosis 4

BPGM [ENSP00000376840]

2,3-bisphosphoglycerate mutase, erythrocyte; 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 activity; Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily.

Synonyms:  BPGM,  A0A024R782,  C9JH23,  P07738,  C9JH23p ...

Linkouts:  STRING  Pharos  UniProt