| Health / Medical Topics |
EPAS1 wt Allele
Human EPAS1 wild-type allele is located within 2p21-p16 and is approximately 93 kb in length. This allele, which encodes endothelial PAS domain-containing protein 1, is involved in the regulation of transcription in response to oxygen. Mutation of the gene is associated with familial erythrocytosis type 4. (NCI Thesaurus)
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