| ncRNA Symbol: | EGLN1 |
| Full Name: | egl-9 family hypoxia inducible factor 1 |
| Category: | mRNA |
| Synonyms: | C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6 |
| Chromosome: | chr1 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 231363751 | End Site(bp): | 231425044 | |
| Gene 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] |
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