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This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
[中文简述(自动翻译):]  该基因编码的I类吡啶核苷酸 - 二硫化物氧化还原酶家族的一个成员。这种酶是同型二聚体黄素蛋白。它是细胞抗氧化防御的中心酶,并减少氧化型谷胱甘肽二硫化物(GSSG)的巯基形式谷胱甘肽,这是一种重要的细胞的抗氧化剂。稀有突变在该基因导致遗传性谷胱甘肽还原酶缺乏症。已发现编码不同亚型多重选择性剪接转录变异体。 [由RefSeq的,2010年8月提供]
GSR基因(以及对应的蛋白质)的细胞分布位置:
GSR基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Diabetes Mellitus, Experimental | 0.2 | 3 | 0 | CTD_human_RGD |
Hyperthyroidism | 0.2 | 2 | 0 | CTD_human_RGD |
Parkinsonian Disorders | 0.2 | 2 | 0 | CTD_human_RGD |
Amyotrophic Lateral Sclerosis | 0.12 | 1 | 0 | CTD_human |
Anemia | 0.12 | 1 | 0 | CTD_human |
Anemia, Hemolytic | 0.12 | 1 | 0 | CTD_human |
Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
Edema | 0.12 | 1 | 0 | CTD_human |
Hypoglycemia | 0.12 | 1 | 0 | CTD_human |
Protein Deficiency | 0.12 | 1 | 0 | CTD_human |
Neurodegenerative Disorders | 0.12 | 1 | 0 | CTD_human |
Ureteral Calculi | 0.12 | 1 | 0 | CTD_human |
Alzheimer's Disease | 0.080271442 | 2 | 0 | BeFree_RGD |
Cadmium poisoning | 0.08 | 1 | 0 | RGD |
Transient Ischemic Attack | 0.08 | 1 | 0 | RGD |
Diabetic Nephropathy | 0.08 | 1 | 0 | RGD |
Huntington Disease | 0.08 | 1 | 0 | RGD |
Hypercholesterolemia | 0.08 | 2 | 0 | RGD |
Acute Kidney Tubular Necrosis | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.08 | 1 | 0 | RGD |
Myocardial Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Myoglobinuria | 0.08 | 1 | 0 | RGD |
Peptic Ulcer | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Cataract | 0.08 | 1 | 0 | RGD |
Alcohol-Induced Disorders | 0.08 | 1 | 0 | RGD |
Acute Lung Injury | 0.08 | 1 | 0 | RGD |
Lung Injury | 0.08 | 1 | 0 | RGD |
Arsenic Poisoning | 0.08 | 1 | 0 | RGD |
Endotoxemia | 0.08 | 1 | 0 | RGD |
Non-alcoholic Fatty Liver Disease | 0.08 | 1 | 0 | RGD |
Organophosphate poisoning | 0.08 | 1 | 0 | RGD |
Drug-Induced Liver Injury | 0.08 | 2 | 0 | RGD |
NEPHROLITHIASIS, CALCIUM OXALATE | 0.08 | 1 | 0 | RGD |
Acute kidney injury | 0.08 | 1 | 0 | RGD |
Malignant neoplasm of breast | 0.005005506 | 3 | 0 | BeFree_GAD |
Adenocarcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Chronic Obstructive Airway Disease | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Malignant neoplasm of lung | 0.002909916 | 3 | 0 | BeFree_GAD |
Alcoholic Intoxication, Chronic | 0.00272435 | 1 | 0 | LHGDN |
Squamous cell carcinoma | 0.00272435 | 1 | 0 | LHGDN |
Cerebral Palsy | 0.00272435 | 1 | 0 | LHGDN |
Chronic Lymphocytic Leukemia | 0.00272435 | 1 | 0 | LHGDN |
Osteomyelitis | 0.00272435 | 1 | 0 | LHGDN |
Atherosclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Riboflavin Deficiency | 0.001085767 | 4 | 0 | BeFree |
beta Thalassemia | 0.000814326 | 3 | 0 | BeFree |
Malaria | 0.000814326 | 3 | 0 | BeFree |
Neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Central neuroblastoma | 0.000814326 | 3 | 0 | BeFree |
Hematological Disease | 0.000542884 | 2 | 0 | BeFree |
Obesity | 0.000542884 | 2 | 0 | BeFree |
Trisomy | 0.000542884 | 2 | 0 | BeFree |
Malnutrition | 0.000542884 | 2 | 0 | BeFree |
Chromosome 8, trisomy | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of lung | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
insulinoma | 0.000271442 | 1 | 0 | BeFree |
Malaria, Falciparum | 0.000271442 | 1 | 0 | BeFree |
Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
Osteoporosis | 0.000271442 | 1 | 0 | BeFree |
Cerebrovascular accident | 0.000271442 | 1 | 0 | BeFree |
Chagas Disease | 0.000271442 | 1 | 0 | BeFree |
Gestational Diabetes | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C, Chronic | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Amyotrophic Lateral Sclerosis, Sporadic | 0.000271442 | 1 | 0 | BeFree |
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