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egln1

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Official Full Name
egl-9 family hypoxia-inducible factor 1
Background
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). [provided by RefSeq, Nov 2009]
Synonyms
EGLN1; egl-9 family hypoxia-inducible factor 1; HPH2; PHD2; SM20; ECYT3; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2; egl nine homolog 1; egl nine-like protein 1; HIF prolyl hydroxylase 2; HIF-prolyl hydroxylase 2; zinc finger MYND domain-containing protein 6; hypoxia-inducible factor prolyl hydroxylase 2; prolyl hydroxylase domain-containing protein 2; egl nine homolog 1 (C. elegans); C1orf12, EGL nine (C.elegans) homolog 1; SM 20; DKFZp761F179