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Gene : EGLN1 Homo sapiens

Name  ? egl-9 family hypoxia inducible factor 1 Cytological Location  1q42.2
Brief Description  egl-9 family hypoxia inducible factor 1
Description  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:
  • OTTHUMG00000038027,
  • HPH-2,
  • ZMYND6,
  • HALAH,
  • uc001huv.2,
  • HPH2,
  • SM20,
  • HIFPH2,
  • SM-20,
  • egl-9 family hypoxia-inducible factor 1,
  • C1orf12,
  • AJ310543,
  • HIF-PH2,
  • egl nine homolog 1 (C. elegans),
  • PHD2,
  • HGNC:1232,
  • C1orf12,
  • HIFPH2,
  • NM_022051,
  • EGLN1,
  • ZMYND6,
  • ECYT3,
  • EGL nine (C.elegans) homolog 1,
  • PHD2,
  • HIF prolyl hydroxylase 2
  • identifiers:
  • 54583,
  • ENSG00000135766,
  • EGLN1

Genome feature

Region: gene ? Length: 58577  
Location: 1:231363756-231422332 reverse strand Cyto location: 1q42.2

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2 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results