Synonyms:C1orf12, ECYT3, EGLN1, ENTREZ:54583, HALAH, HGNC:1232, HIF-PH2, HIFPH2, HPH-2, HPH2, MIM:606425, NM_001377260, NM_001377261, NM_022051, NP_001364189, NP_001364190, NP_071334, PHD2, SM20, XM_024447734, XP_024303502, ZMYND6, egl-9 family hypoxia inducible factor 1
Omim:OMIM:606425
Id:ENSG00000135766
Hgnc:HGNC:1232
Description:egl-9 family hypoxia inducible factor 1
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]