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Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
[中文简述(自动翻译):]  谷氨酸半胱氨酸连接酶,也被称为伽马谷氨酰半胱氨酸合成酶是谷胱甘肽合成的第一限速酶。该酶由两个亚单位,重催化亚基和一个光调节亚基。该位点编码的催化亚基,而调节亚基由位于染色体1p22-p21的不同的基因。在这个位点突变与溶血性贫血有关,由于伽马谷氨酰半胱氨酸合成酶和易患心肌梗塞的不足。[由RefSeq的,2010年10月提供]
GCLC基因(以及对应的蛋白质)的细胞分布位置:
GCLC基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to | 0.48 | 3 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Myocardial Infarction | 0.242638474 | 1 | 0 | BeFree_CLINVAR_CTD_human_GAD |
Drug-Induced Liver Injury | 0.2 | 2 | 0 | CTD_human_RGD |
Hypertensive disease | 0.125091382 | 2 | 0 | CTD_human_GAD_LHGDN |
Anemia, Hemolytic | 0.120814326 | 3 | 0 | BeFree_CTD_human |
Non-Small Cell Lung Carcinoma | 0.120271442 | 2 | 0 | BeFree_CTD_human |
Amino Acid Metabolism, Inborn Errors | 0.12 | 1 | 0 | CTD_human |
Coronary Vessel Anomalies | 0.12 | 1 | 0 | CTD_human |
Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
Pulmonary Emphysema | 0.08 | 1 | 0 | RGD |
Cataract, Age-Related Nuclear | 0.08 | 0 | 0 | MGD |
Malignant neoplasm of lung | 0.008186863 | 7 | 0 | BeFree_GAD |
Cystic Fibrosis | 0.005091382 | 1 | 0 | GAD_LHGDN |
Cerebrovascular accident | 0.004734064 | 1 | 1 | GAD |
Chronic Obstructive Airway Disease | 0.003181358 | 4 | 0 | BeFree_GAD |
Coronary heart disease | 0.002909916 | 3 | 0 | BeFree_GAD |
Schizophrenia | 0.002909916 | 3 | 0 | BeFree_GAD |
Asthma | 0.00272435 | 1 | 0 | LHGDN |
Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Hypoglycemia | 0.00272435 | 1 | 0 | LHGDN |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Berylliosis | 0.002367032 | 1 | 0 | GAD |
Kidney Failure, Chronic | 0.002367032 | 1 | 0 | GAD |
Stenosis | 0.002367032 | 1 | 0 | GAD |
Malignant tumor of colon | 0.001085767 | 4 | 0 | BeFree |
Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Prostate carcinoma | 0.001085767 | 4 | 1 | BeFree |
Carcinoma of lung | 0.001085767 | 4 | 0 | BeFree |
Colorectal Cancer | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Colon Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Coronary Arteriosclerosis | 0.000542884 | 2 | 0 | BeFree |
Diabetes Mellitus, Insulin-Dependent | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
Nonketotic Hyperglycinemia | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of ovary | 0.000542884 | 2 | 0 | BeFree |
Coronary Artery Disease | 0.000542884 | 2 | 0 | BeFree |
Liver carcinoma | 0.000542884 | 2 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Mental disorders | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
Hypercholesterolemia, Familial | 0.000271442 | 1 | 0 | BeFree |
Neonatal Jaundice | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000271442 | 1 | 0 | BeFree |
Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lung diseases | 0.000271442 | 1 | 0 | BeFree |
Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 1 | BeFree |
Pneumonia | 0.000271442 | 1 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Pilocytic Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Streptococcal toxic shock syndrome | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 1 | BeFree |
Hematologic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Neuropathy | 0.000271442 | 1 | 0 | BeFree |
hiv-infection/aids | 0.000271442 | 1 | 0 | BeFree |
Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Malignant Pleural Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Pleural Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
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