This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
此基因是铁/锰超氧化物歧化酶家族的一个成员。它编码形成同源四聚体并结合每亚基1锰离子线粒体蛋白。该蛋白质结合的氧化磷酸化的超氧化物副产物,并将其转换成过氧化氢和二原子氧。在这种基因突变与特发性心肌病(IDC),早衰,散发性运动神经元疾病,和癌症相关联。备用转录剪接变体,编码不同同种型,已经表征。 [由RefSeq的,2008年7月提供]
SOD2基因(以及对应的蛋白质)的细胞分布位置:
SOD2基因的本体(GO)信息:
名称 |
---|
4068 FoxO signaling pathway [PATH:hsa04068] |
4146 Peroxisome [PATH:hsa04146] |
5016 Huntington's disease [PATH:hsa05016] |
名称 |
---|
Cellular responses to stress |
Detoxification of Reactive Oxygen Species |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding) | 0.24 | 0 | 1 | CLINVAR_CTD_human |
Esophageal Neoplasms | 0.210096888 | 7 | 0 | BeFree_CTD_human_GAD_LHGDN_RGD |
Hypertensive disease | 0.210011012 | 10 | 0 | BeFree_CTD_human_GAD_RGD |
Myocardial Infarction | 0.204734064 | 5 | 0 | CTD_human_GAD_RGD |
Aortic Aneurysm, Abdominal | 0.2 | 1 | 0 | CTD_human_RGD |
Diabetes Mellitus, Experimental | 0.2 | 3 | 0 | CTD_human_RGD |
Reperfusion Injury | 0.2 | 7 | 0 | CTD_human_RGD |
Mammary Neoplasms | 0.149524658 | 16 | 0 | BeFree_CTD_human_GAD_LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.143474823 | 18 | 4 | BeFree_CTD_human_GAD |
Prostatic Neoplasms | 0.141351607 | 12 | 1 | BeFree_CTD_human_GAD_LHGDN |
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