實(shí)體腫瘤檢測NQO1基因介紹
該基因是NAD（P）H脫氫酶（醌）家族的成員，編碼胞質(zhì)2-電子還原酶。這種FAD結(jié)合蛋白形成同二聚體，并將醌類還原為對苯二酚類。這種蛋白質(zhì)的酶活性阻止了醌類的單電子還原，從而導(dǎo)致自由基的產(chǎn)生。該基因突變與遲發(fā)性運(yùn)動障礙（TD）、暴露于苯后血液毒性風(fēng)險增加以及對各種癌癥的易感性有關(guān)。這種蛋白的改變表達(dá)在許多腫瘤中都有發(fā)現(xiàn)，也與阿爾茨海默?。ˋD）有關(guān)。編碼不同亞型的替代轉(zhuǎn)錄剪接變異體已經(jīng)被描述。
This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
