| Gene Symbol | EPAS1 |
| Entrez Gene ID | 2034 |
| Full Name | endothelial PAS domain protein 1 |
| Synonyms | ECYT4,HIF2A,HLF,MOP2,PASD2,bHLHe73 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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. [provided by RefSeq, Nov 2009]. |
| Disorder MIM: | |
| Disorder Html: | Erythrocytosis, familial, 4, 611783 (3) |

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