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Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  谷胱甘肽为多种生物学功能,包括通过自由基的氧化损伤的保护的细胞,外源物的解毒,和膜运输重要。由该基因的功能进行编码作为同二聚体蛋白质催化谷胱甘肽的生物合成的第二步骤中,这是伽玛-L-谷氨酰-L-半胱氨酸谷胱甘肽的ATP依赖性的转换。在这个基因的缺陷是谷胱甘肽合成不足的原因。 [由RefSeq的,2008年7月提供]
GSS基因(以及对应的蛋白质)的细胞分布位置:
GSS基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Gluthathione synthetase deficiency | 0.480271442 | 1 | 7 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to | 0.36 | 0 | 1 | CLINVAR_CTD_human_ORPHANET |
| Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Mouth Diseases | 0.12 | 1 | 0 | CTD_human |
| Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of lung | 0.002638474 | 2 | 0 | BeFree_GAD |
| Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
| Ataxia | 0.001085767 | 4 | 0 | BeFree |
| Presenile dementia | 0.000814326 | 3 | 0 | BeFree |
| Dementia | 0.000814326 | 3 | 0 | BeFree |
| HIV Infections | 0.000542884 | 2 | 0 | BeFree |
| Neurodegenerative Disorders | 0.000542884 | 2 | 0 | BeFree |
| Anemia, Hemolytic | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
| Dwarfism | 0.000271442 | 1 | 0 | BeFree |
| Hypercholesterolemia, Familial | 0.000271442 | 1 | 0 | BeFree |
| Chronic Obstructive Airway Disease | 0.000271442 | 1 | 0 | BeFree |
| Macular Edema, Cystoid | 0.000271442 | 1 | 0 | BeFree |
| Pain | 0.000271442 | 1 | 0 | BeFree |
| Adenomatous Polyposis Coli | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Amyloid Angiopathy | 0.000271442 | 1 | 0 | BeFree |
| Neurologic Symptoms | 0.000271442 | 1 | 0 | BeFree |
| Macular retinal edema | 0.000271442 | 1 | 0 | BeFree |
| Constitutional delay of growth and puberty | 0.000271442 | 1 | 0 | BeFree |
| Enzymopathy | 0.000271442 | 1 | 0 | BeFree |
| Emotional problems | 0.000271442 | 1 | 0 | BeFree |
| Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Familial Dementia | 0.000271442 | 1 | 0 | BeFree |
| Retinal Dystrophies | 0.000271442 | 1 | 0 | BeFree |
| Acquired CJD | 0.000271442 | 1 | 0 | BeFree |
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