EGLN1, CT (EGLN1, C1orf12, Egl nine homolog 1, Hypoxia-inducible factor prolyl hydroxylase 2, Prolyl hydroxylase domain-containing protein 2, SM-20) (PE)

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). Applications: Suitable...