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) |