Your search for "kiaa2013" returned 34 TaqMan® SNP Genotyping Assays
egl-9 family hypoxia inducible factor 1
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]
AI503754, C1ORF12, ECYT3, EGLN1, HALAH, HIF-P4H-2, HIF-PH2, HIFPH2, HPH-2, HPH2, ORF13, PHD-2, PHD2, SM-20, SM20, ZMYND6
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