Gene Symbol | EGLN1 |
Entrez Gene ID | 54583 |
Full Name | egl-9 family hypoxia inducible factor 1 |
Synonyms | C1orf12,ECYT3,HALAH,HIF-PH2,HIFPH2,HPH-2,HPH2,PHD2,SM20,ZMYND6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Erythrocytosis, familial, 3, 609820 (3); [Hemoglobin, high altitude adaptation], 609070 (3) |