{"symbol":"EGLN1","synonyms":["SM20","ZMYND6","ECYT3","HALAH","HPH-2","PHD2","C1ORF12","HIFPH2","HIF-PH2"],"name":"egl-9 family hypoxia-inducible factor 1","description":"The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]","ncbiEntrezGeneId":54583,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/54583","proteins":[{"symbol":"EGLN1_HUMAN","href":"/api/1.0/protein/EGLN1_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}