BPGM wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BPGM wild-type allele is located in the vicinity of 7q33 and is approximately 33 kb in length. This allele, which encodes bisphosphoglycerate mutase protein, plays a role in the regulation of hemoglobin oxygenation. Loss of function mutations in the gene is associated with familial erythrocytosis 8.

**Synonyms:** - 2,3-BPG Phosphatase Gene - 2,3-Bisphosphoglycerate Mutase Gene - 2,3-Bisphosphoglycerate Phosphatase Gene - Bisphosphoglycerate Mutase wt Allele - DPGM - ECYT8 - Erythrocyte 2,3-Bisphosphoglycerate Mutase Gene