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Official Full Name: endothelial PAS domain protein 1
Also known as: HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4.