該基因編碼轉錄因子缺氧誘導因子-1(hif-1)的α亞單位,是由α亞單位和β亞單位組成的異二聚體。HIF-1通過激活許多基因的轉錄,包括那些參與能量代謝、血管生成、細胞凋亡和其他蛋白質產物增加氧氣輸送或促進對缺氧的代謝適應的基因,作為細胞和全身對缺氧的穩態反應的主要調節器。因此,HIF-1在胚胎血管化、腫瘤血管生成和缺血性疾病的病理生理學中起著重要作用。另外,編碼不同亞型的剪接轉錄變體已被鑒定為該基因。
This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.