Official Full Name
endothelial PAS domain protein 1
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.
EPAS1; endothelial PAS domain protein 1; endothelial PAS domain-containing protein 1; mHLF; EPAS-1; HIF2-alpha; HIF-2-alpha; Hif like protein; HIF-related factor; HIF1alpha-like factor; HIF1 alpha-like factor; HIF-1-alpha-like factor; HLF (HIF1alpha-like; bHLHe73; HIF 1 alpha like factor; HIF2A; HLF; MOP2; PASD2; HIF-1alpha-like factor; member of PAS protein 2; PAS domain-containing protein 2; hypoxia-inducible factor 2 alpha; hypoxia-inducible factor 2-alpha; basic-helix-loop-helix-PAS protein MOP2; class E basic helix-loop-helix protein 73; ECYT4