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NCBI Description of EPAS1 |
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. |
Community Annotation of EPAS1 Add / Edit EPAS1: Annotations
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Figure notes
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Data details