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This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  该基因编码催化从头嘌呤生物合成途径的最后两个步骤的双功能蛋白。 N-末端结构域具有phosphoribosylaminoimidazolecarboxamide甲酰活性,和C末端结构域具有IMP环化活性。在AICA-ribosiduria这个基因导致的突变。 [由RefSeq的,2009年09月提供]
ATIC基因(以及对应的蛋白质)的细胞分布位置:
ATIC基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency | 0.48 | 1 | 1 | CLINVAR_CTD_human_ORPHANET_UNIPROT |
Rheumatoid Arthritis | 0.137197984 | 6 | 3 | BeFree_CTD_human_GAD_LHGDN |
Osteoporosis | 0.12 | 1 | 0 | CTD_human |
Adverse reaction to drug | 0.12 | 1 | 0 | CTD_human |
Arthritis, Experimental | 0.08 | 1 | 0 | RGD |
Methotrexate poisoning | 0.007101096 | 3 | 0 | GAD |
Gastrointestinal Diseases | 0.002367032 | 1 | 0 | GAD |
Psoriasis | 0.002367032 | 1 | 0 | GAD |
Spina Bifida | 0.002367032 | 1 | 0 | GAD |
Drug-Induced Liver Injury | 0.002367032 | 1 | 0 | GAD |
Colorectal Cancer | 0.002367032 | 1 | 0 | GAD |
Ki-1+ Anaplastic Large Cell Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
Cervix carcinoma | 0.000542884 | 2 | 0 | BeFree |
Congenital blindness | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mental Depression | 0.000271442 | 1 | 0 | BeFree |
Depressive disorder | 0.000271442 | 1 | 0 | BeFree |
Lesch-Nyhan Syndrome | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Non-Hodgkin | 0.000271442 | 1 | 0 | BeFree |
Obesity | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Large-Cell, Follicular | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of lung (disorder) | 0.000271442 | 1 | 0 | BeFree |
Adenylosuccinate lyase deficiency (disorder) | 0.000271442 | 1 | 0 | BeFree |
Inflammatory Myofibroblastic Tumor | 0.000271442 | 1 | 0 | BeFree |
Malignant Pleural Mesothelioma | 0.000271442 | 1 | 0 | BeFree |
Urinary Bladder Inflammatory Myofibroblastic Tumor | 0.000271442 | 1 | 0 | BeFree |
Cancer Cell Growth | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
Juvenile arthritis | 0.000271442 | 1 | 0 | BeFree |
Juvenile rheumatoid arthritis | 0.000271442 | 1 | 0 | BeFree |
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