CAT基因编码过氧化氢酶(catalase),这是一种关键的抗氧化酶,负责将细胞内的过氧化氢(H₂O₂)分解为水和氧气,从而保护细胞免受氧化应激损伤。过氧化氢是细胞代谢过程中产生的活性氧(ROS)之一,过量积累会导致DNA、蛋白质和脂质损伤。CAT主要在肝脏、红细胞和肾脏中高表达,其活性位点含有血红素辅基(heme group),依赖铁离子催化反应。CAT基因突变可能导致酶活性降低或丧失,引发遗传性过氧化氢酶缺乏症(acatalasemia),患者表现为口腔溃疡易感性增加,严重时可能诱发糖尿病或神经退行性疾病。该基因与衰老、癌症(如乳腺癌和肺癌)及神经退行性疾病(如阿尔茨海默病)相关,因其抗氧化功能失调会加剧氧化损伤。CAT过表达可增强细胞抗氧化能力,但可能干扰H₂O₂的信号传导功能(如细胞增殖和免疫响应);表达降低则导致ROS积累,加速细胞衰老或凋亡。CAT属于抗氧化酶基因家族,该家族还包括超氧化物歧化酶(SOD)和谷胱甘肽过氧化物酶(GPX),它们协同清除不同种类的活性氧,维持氧化还原平衡。家族共性是通过分解ROS保护细胞,且多数依赖金属辅因子(如Cu/Zn、Fe、Se)发挥功能。
This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
该基因编码过氧化氢酶,在对抗氧化应激的尸体防御的关键抗氧化酶。过氧化氢酶是血红素酶存在于几乎所有的有氧细胞的过氧化物酶。过氧化氢酶转换活性氧的过氧化氢水和氧气,从而减轻了过氧化氢的毒性作用。氧化应激是假设发挥许多慢性或迟发性疾病,如糖尿病,哮喘,阿尔茨海默氏病,全身性红斑狼疮,类风湿关节炎和癌症的发展中的作用。在这种基因多态性已与在过氧化氢酶的活性降低有关,但迄今为止,acatalasemia是已知的由该基因所引起的唯一疾病。 [由RefSeq的,2009年10月提供]
CAT基因(以及对应的蛋白质)的细胞分布位置:
CAT基因的本体(GO)信息:
名称 |
---|
630 Glyoxylate and dicarboxylate metabolism [PATH:hsa00630] |
380 Tryptophan metabolism [PATH:hsa00380] |
4068 FoxO signaling pathway [PATH:hsa04068] |
4146 Peroxisome [PATH:hsa04146] |
5014 Amyotrophic lateral sclerosis (ALS) [PATH:hsa05014] |
名称 |
---|
Cellular responses to stress |
Detoxification of Reactive Oxygen Species |
Metabolism |
Metabolism of nucleotides |
Purine catabolism |
Purine metabolism |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Acatalasia | 0.362442977 | 12 | 0 | BeFree_CLINVAR_CTD_human_ORPHANET |
Hypertensive disease | 0.219369519 | 18 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Kidney Failure, Chronic | 0.202638474 | 5 | 0 | BeFree_CTD_human_GAD_RGD |
Fatty Liver | 0.200271442 | 3 | 0 | BeFree_CTD_human_RGD |
Hyperthyroidism | 0.2 | 2 | 0 | CTD_human_RGD |
Reperfusion Injury | 0.2 | 6 | 0 | CTD_human_RGD |
Myocardial Infarction | 0.2 | 2 | 0 | CTD_human_RGD |
Brain Ischemia | 0.2 | 2 | 0 | CTD_human_RGD |
Diabetes Mellitus, Experimental | 0.2 | 4 | 0 | CTD_human_RGD |
Myocardial Reperfusion Injury | 0.2 | 2 | 0 | CTD_human_RGD |
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