HIF1A

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HIF1A

A gene on chromosome 14q23.2 that encodes hypoxia-inducible factor-1 (HIF1), a transcription factor produced by mammalian cells cultured under reduced oxygen tension, which plays an essential role in homeostatic responses to hypoxia, activating the transcription of over 40 genes including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia.

HIF1 plays an essential role in embryonic vascularisation, tumour angiogenesis and pathophysiology of ischaemic disease. HIF1 is a heterodimer composed of an alpha subunit (encoded by HIF1A) and a beta subunit (aryl hydrocarbon receptor nuclear translocator) encoded by ARNT.

Molecular pathology
Overexpression of a natural antisense transcript (aHIF) of HIF1A is associated with nonpapillary renal carcinomas.