Protein Name | endothelial PAS domain protein 1 |
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Organism | Homo sapiens |
Gene ID | 2034 |
Gene Symbol | EPAS1 |
UniProt | Q99814 (EPAS1_HUMAN), B3KW07 (B3KW07_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
257
Total Number of Articles : 456 |
Description |
endothelial PAS domain protein 1 |
Gene 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] |
synonyms |
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Properties | |