Egl nine homolog 2 (EGLN2)

Egl nine homolog 2 (EGLN2) is an enzyme that functions as a prolyl hydroxylase, specifically catalyzing the post-translational modification of the alpha subunit of hypoxia-inducible factors (HIFs). Under normal oxygen conditions, EGLN2 hydroxylates specific proline residues on HIF-alpha proteins, marking them for ubiquitination and proteasomal degradation. This process regulates cellular adaptation to oxygen availability by controlling levels of HIF-regulated genes involved in angiogenesis, metabolism, cell survival, and proliferation. Alternative splicing produces multiple transcript variants encoding the same protein. Dysregulation or genetic variation in EGLN2 has been implicated in several diseases including various cancers (notably colorectal cancer), polycythemia, pheochromocytoma, and possibly neurodegenerative processes. The term "EGLN2 mRNA biomarker" refers not to a molecular target but rather to measurement of EGLN2 gene expression as a marker for pathway activity or disease state; thus it is not itself a therapeutic target but rather an indicator related to one[1][3][7].

Other names

Prolyl hydroxylase domain-containing protein 1 (PHD1)Egl-9 family hypoxia inducible factor 2HIF prolyl hydroxylase 1PHD1HPH-3