| Entrez Gene ID | 54583 |
|---|---|
| Official Gene Symbol | EGLN1 (GeneCards) |
| Full name | egl-9 family hypoxia inducible factor 1 |
| Location | 1q42.2 |
| Other ids | Vega : OTTHUMG00000038027 MIM : 606425 HGNC : HGNC:1232 Ensembl : ENSG00000135766 |
| Other names | HPH2, PHD2, SM20, ECYT3, HALAH, HPH-2, HIFPH2, ZMYND6, C1orf12, HIF-PH2 |
| 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 2072 | 54583 | EGLN1 | 1 | 231517879 | 231517879 | Asymptomatic | HiSeq X Ten |
| 29130 | 54583 | EGLN1 | 1 | 231506328 | 231506328 | Autism Spectrum Disorders | HiSeq X Ten PASM |