Hypoxia-inducible factor prolyl hydroxylase 2 (HIF-PH2), or prolyl hydroxylase domain-containing protein 2 (PHD2), is an enzyme encoded by the EGLN1 gene. It is also known as Egl nine homolog 1. [5][6][7][8] PHD2 is a α-ketoglutarate/2-oxoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.

2024年12月24日 · EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1) is a Protein Coding gene. Diseases associated with EGLN1 include Erythrocytosis, Familial, 3 and Hemoglobin, High Altitude Adaptation. Among its related pathways are Cellular responses to stimuli and Autodegradation of the E3 ubiquitin ligase COP1.

The EGLN1 gene, often known as PHD2, provides instructions for making an enzyme called prolyl hydroxylase domain 2 (PHD2). The PHD2 enzyme interacts with a protein called hypoxia-inducible factor 2-alpha (HIF-2α).

2025年2月8日 · findings reveal a differential dependency of clear cell ovarian cancers on EGLN1, thus identifying EGLN1 as a potential therapeutic target in clear cell ovarian cancer patients; the high-altitude adaptative mutations in EGLN1 in Tibetans are absent or found at low frequency in highland Andeans

2024年4月26日 · EGLN1 is identified as a key mediator of the oxygen enhancement of antiviral innate immune responses. Under sufficient oxygen conditions, EGLN1 retains its prolyl hydroxylase...

We focused our study on the EGLN1 gene and identified 39 germline missense variants including one gene deletion in 47 probands. EGLN1 encodes the PHD2 prolyl 4-hydroxylase, a major inhibitor of hypoxia-inducible factor.

2020年2月13日 · HGNC Approved Gene Symbol: EGLN1. The EGLN1 gene encodes prolyl hydroxylase domain-containing protein-2 (PHD2), which catalyzes the posttranslational modification of hypoxia-inducible transcription factors that play a central role in mammalian oxygen homeostasis.

2024年6月17日 · Inhibiting PHD2 in human periodontal ligament cells via lentiviral vector-mediated RNA interference facilitates cell osteogenic differentiation and periodontal repair. An integrative functional genomics approach reveals EGLN1 as a novel therapeutic target in KRAS mutated lung adenocarcinoma.

2024年11月3日 · Title: A mitochondrial EglN1-AMPKα axis drives breast cancer progression by enhancing metabolic adaptation to hypoxic stress. The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-alpha.

Egg-laying defective nine 1 (EGLN1) functions as an oxygen sensor to catalyze prolyl hydroxylation of the transcription factor hypoxia-inducible factor-1 α under normoxia conditions, leading to its proteasomal degradation.