The egln3 gene encodes a prolyl hydroxylase enzyme that regulates the hypoxia-inducible factor (HIF) pathway by targeting HIF-alpha subunits for proteasomal degradation under normoxic conditions. This ...[+]

The egln3 gene encodes a prolyl hydroxylase enzyme that regulates the hypoxia-inducible factor (HIF) pathway by targeting HIF-alpha subunits for proteasomal degradation under normoxic conditions. This protein is involved in developmental processes, including angiogenesis, erythropoiesis, and cranial cartilage formation. Expression is detected in the notochord, somites, brain, eye, branchial arches, and pronephros during embryogenesis. The protein localizes to the cytoplasm and nucleus. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD