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Arginase catalyzes the hydrolysis of arginine to ornithine and urea. At least two isoforms of mammalian arginase exist (types I and II) which differ in their tissue distribution, subcellular localization, immunologic crossreactivity and physiologic function. The type I isoform encoded by this gene, is a cytosolic enzyme and expressed predominantly in the liver as a component of the urea cycle. Inherited deficiency of this enzyme results in argininemia, an autosomal recessive disorder characterized by hyperammonemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
[中文简述(自动翻译):]  精氨酸酶催化精氨酸鸟氨酸和尿素的水解。哺乳动物精氨酸酶的至少两个同种型存在其中在其组织分布不同(类型I和II),亚细胞定位,免疫交叉反应性和生理功能。我同种型由该基因编码的类型,是一种胞质酶和在肝脏中作为尿素循环的成分主要表达。这种酶的先天性缺乏导致argininemia,常染色体隐性遗传疾病的特点是高血氨症。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2011年9月提供]
ARG1基因(以及对应的蛋白质)的细胞分布位置:
ARG1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Hyperargininemia | 0.563257302 | 12 | 3 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Silicosis | 0.2 | 2 | 0 | CTD_human_RGD |
Asthma | 0.129901391 | 11 | 0 | BeFree_CTD_human_GAD_LHGDN |
Precancerous Conditions | 0.122367032 | 2 | 0 | CTD_human_GAD |
Amino Acid Metabolism, Inborn Errors | 0.12 | 1 | 0 | CTD_human |
Hair Diseases | 0.12 | 1 | 0 | CTD_human |
Immune System Diseases | 0.12 | 1 | 0 | CTD_human |
Leishmaniasis | 0.12 | 1 | 0 | CTD_human |
Myopathy | 0.12 | 1 | 0 | CTD_human |
Drug-Induced Liver Injury | 0.12 | 1 | 0 | CTD_human |
Hypertensive disease | 0.08272435 | 3 | 0 | LHGDN_RGD |
Cholestasis | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
Hypercapnia | 0.08 | 1 | 0 | RGD |
Insulin Resistance | 0.08 | 1 | 0 | RGD |
Intestinal Fistula | 0.08 | 1 | 0 | RGD |
Liver Cirrhosis, Experimental | 0.08 | 1 | 0 | RGD |
Liver diseases | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Ureteral obstruction | 0.08 | 1 | 0 | RGD |
Uveitis | 0.08 | 1 | 0 | RGD |
Liver Failure | 0.08 | 1 | 0 | RGD |
Hyperoxia | 0.08 | 1 | 0 | RGD |
Pancreatitis, Acute Necrotizing | 0.08 | 1 | 0 | RGD |
Acute kidney injury | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.005905708 | 3 | 1 | BeFree_GAD_LHGDN |
Pulmonary Hypertension | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Neoplasm Metastasis | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Colorectal Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Hepatitis, Autoimmune | 0.00272435 | 1 | 0 | LHGDN |
Coronary heart disease | 0.002638474 | 1 | 0 | BeFree_GAD |
Bronchiolitis, Viral | 0.002367032 | 1 | 0 | GAD |
Inflammation | 0.002367032 | 1 | 0 | GAD |
Respiratory Syncytial Virus Infections | 0.002367032 | 1 | 0 | GAD |
Stomach Neoplasms | 0.002367032 | 1 | 0 | GAD |
Helicobacter Infections | 0.002367032 | 1 | 0 | GAD |
Atopy | 0.002367032 | 1 | 0 | GAD |
Arteriosclerosis | 0.000814326 | 3 | 0 | BeFree |
Atherosclerosis | 0.000814326 | 3 | 0 | BeFree |
Ischemia | 0.000814326 | 3 | 0 | BeFree |
Childhood asthma | 0.000814326 | 3 | 0 | BeFree |
Liver carcinoma | 0.000814326 | 3 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Cardiovascular Diseases | 0.000542884 | 2 | 0 | BeFree |
Esophageal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Tuberculosis | 0.000542884 | 2 | 0 | BeFree |
Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
Central neuroblastoma | 0.000542884 | 2 | 0 | BeFree |
Anorexia | 0.000271442 | 1 | 0 | BeFree |
Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
Bronchopulmonary Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hemangiosarcoma | 0.000271442 | 1 | 0 | BeFree |
Hepatitis C | 0.000271442 | 1 | 0 | BeFree |
Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree |
Muscle Spasticity | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Psoriasis | 0.000271442 | 1 | 0 | BeFree |
Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
Diffuse cutaneous leishmaniasis | 0.000271442 | 1 | 0 | BeFree |
Obstructive nephropathy | 0.000271442 | 1 | 0 | BeFree |
Allergic asthma | 0.000271442 | 1 | 0 | BeFree |
Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
Cholangiocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Pulmonary granuloma | 0.000271442 | 1 | 0 | BeFree |
Disseminated neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Stable angina | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
Spastic Quadriplegia | 0.000271442 | 1 | 0 | BeFree |
Overweight | 0.000271442 | 1 | 0 | BeFree |
Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mental impairment | 0.000271442 | 1 | 0 | BeFree |
Carbamoyl-Phosphate Synthase I Deficiency Disease | 0.000271442 | 1 | 0 | BeFree |
Endothelial dysfunction | 0.000271442 | 1 | 0 | BeFree |
Post MI | 0.000271442 | 1 | 0 | BeFree |
Tauopathies | 0.000271442 | 1 | 0 | BeFree |
Stage 4S neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Idiopathic Pulmonary Fibrosis | 0.000271442 | 1 | 0 | BeFree |
RETINOSCHISIS 1, X-LINKED, JUVENILE | 0.000271442 | 1 | 0 | BeFree |
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