EGLN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EGLN1 wild-type allele is located in the vicinity of 1q42.1 and is approximately 61 kb in length. This allele, which encodes egl nine homolog 1 protein, is involved in the response to hypoxia. Mutation of the gene is associated with familial erythrocytosis type 3.

**Synonyms:** - C1orf12 - DKFZp761F179 - ECYT3 - Egl Nine Homolog 1 (C. elegans) wt Allele - HIF Prolyl Hydroxylase 2 Gene - HIF-PH2 - HIFPH2 - HPH-2 - HPH2 - PHD2 - PNAS-118 - PNAS-137 - SM-20 - SM20