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Gene Detail

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Gene Symbol EGLN1
Synonyms C1orf12 | ECYT3 | HALAH | HIF-PH2 | HIFPH2 | HPH-2 | HPH2 | PHD2 | SM20 | ZMYND6
Gene Description EGLN1, egl-9 family hypoxia inducible factor 1, is a HIF prolyl hydroxylase that acts as an oxygen sensor by targeting HIF1, leading to ubiquitination via the VHL complex and subsequent HIF1 degradation (PMID: 16157596, PMID: 12912907). EGLN1 mutations have been identified in endometrial cancer (PMID: 16161047) and upregulation of EGLN1 has been identified nasopharyngeal carcinoma (PMID: 35517429).
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