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NQO1

NQO1

該基因是NAD(P)H脫氫酶(醌)傢族的成員,編碼胞質2-電子還原酶。這種FAD結合蛋白形成同二聚體,並將醌類還原為對苯二酚類。這種蛋白質的酶活性阻止瞭醌類的單電子還原,從而導致自由基的產生。該基因突變與遲發性運動障礙(TD)、暴露於苯後血液毒性風險增加以及對各種癌癥的易感性有關。這種蛋白的改變表達在許多腫瘤中都有發現,也與阿爾茨海默病(AD)有關。編碼不同亞型的替代轉錄剪接變異體已經被描述。
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.

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