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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| EGLN1-20-RE | 20 (40 μL) | 200 μL |  |
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| EGLN1-20-OR | 20 (40 μL) | 200 μL |  |
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| EGLN1-20-GO | 20 (40 μL) | 200 μL |  |
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| EGLN1-20-GR | 20 (40 μL) | 200 μL |  |
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| EGLN1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : EGLN1
Gene Name : Egl-9 family hypoxia inducible factor 1
Chromosome : CHR 1: 231,425,043-231,363,750
Locus : 1q42.2
Alt. Genes : ENAM
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