NQO1

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. [provided by RefSeq, Jul 2008]

该基因隶属于NAD(P)H脱氢酶（醌）家族，编码一种细胞质内的二电子还原酶。此FAD结合蛋白形成同源二聚体，并将醌还原为氢醌。该蛋白的酶促活性可防止醌的单电子还原，从而避免产生自由基物种。该基因的突变与迟发性运动障碍（TD）、接触苯后血液毒性风险增加以及各种类型癌症的易感性相关。在许多肿瘤中观察到该蛋白表达方式的改变，且与阿尔茨海默病（AD）亦有关联。已鉴定出该基因的替代转录剪接变体，这些变体编码不同的同种异构体。[由RefSeq提供，2008年7月]