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The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
[中文简述(自动翻译):]  由该基因编码的蛋白质催化精氨酸生物合成途径的倒数第二个步骤。有此基因包括分散在人类基因组中,其中所述一个位于染色体9似乎是精氨琥珀酸合成酶的唯一功能基因的假基因的约10至14份。突变这个基因导致瓜氨酸的9号染色体拷贝。已发现了该基因编码的蛋白质相同的两个转录变异体。 [由RefSeq的,2012年8月提供]
ASS1基因(以及对应的蛋白质)的细胞分布位置:
ASS1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Citrullinemia | 0.454396351 | 48 | 26 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_UNIPROT |
| Diabetic Angiopathies | 0.12 | 1 | 0 | CTD_human |
| Acute-Phase Reaction | 0.08 | 1 | 0 | RGD |
| Anoxia | 0.08 | 1 | 0 | RGD |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Liver Cirrhosis, Experimental | 0.08 | 1 | 0 | RGD |
| Uveitis | 0.08 | 1 | 0 | RGD |
| Liver Failure | 0.08 | 1 | 0 | RGD |
| Hyperammonemia | 0.08 | 1 | 0 | RGD |
| Hyperoxia | 0.08 | 1 | 0 | RGD |
| Endotoxemia | 0.08 | 1 | 0 | RGD |
| Renal Cell Carcinoma | 0.00272435 | 1 | 0 | LHGDN |
| Cleft Lip | 0.002367032 | 1 | 0 | GAD |
| Cleft Palate | 0.002367032 | 1 | 0 | GAD |
| melanoma | 0.001628651 | 6 | 0 | BeFree |
| Argininosuccinic Acid Synthetase Deficiency, Complete | 0.001628651 | 6 | 0 | BeFree |
| Liver carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
| Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Urea Cycle Disorders, Inborn | 0.000814326 | 3 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000814326 | 3 | 0 | BeFree |
| Dystonia Musculorum Deformans | 0.000542884 | 2 | 0 | BeFree |
| leukemia | 0.000542884 | 2 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
| Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Inborn Errors of Metabolism | 0.000542884 | 2 | 0 | BeFree |
| Protein Deficiency | 0.000542884 | 2 | 0 | BeFree |
| Encephalopathies | 0.000542884 | 2 | 0 | BeFree |
| Pancreatic carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.000542884 | 2 | 0 | BeFree |
| Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.000542884 | 2 | 0 | BeFree |
| Malignant Pleural Mesothelioma | 0.000542884 | 2 | 0 | BeFree |
| DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT | 0.000542884 | 2 | 0 | BeFree |
| Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune Diseases | 0.000271442 | 1 | 0 | BeFree |
| Bacterial Infections | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
| Bladder Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Immune System Diseases | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Lupus Erythematosus, Systemic | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.000271442 | 1 | 0 | BeFree |
| Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Nail-Patella Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Septicemia | 0.000271442 | 1 | 0 | BeFree |
| Tremor | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma, T-Cell, Cutaneous | 0.000271442 | 1 | 0 | BeFree |
| Small cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
| Islet Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Sepsis | 0.000271442 | 1 | 0 | BeFree |
| Solid tumour | 0.000271442 | 1 | 0 | BeFree |
| Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Familial Tremor | 0.000271442 | 1 | 0 | BeFree |
| Osteosarcoma of bone | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
| Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Stomach Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| ovarian neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Well Differentiated Pancreatic Endocrine Tumor | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma Multiforme | 0.000271442 | 1 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000271442 | 1 | 0 | BeFree |
| Oropharyngeal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Nasopharyngeal carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Fibromyxosarcoma | 0.000271442 | 1 | 0 | BeFree |
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