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This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
[中文简述(自动翻译):]  这个基因编码催化乙酰乙酰CoA的从乙酰-CoA的两个分子的可逆形成线粒体本地化酶。在该基因缺陷与3-酮硫解酶缺乏症,异亮氨酸代谢的先天错误特征在于2-甲基-3-羟基丁酸,2- methylacetoacetic酸,tiglylglycine和丁酮尿排泄相关联。 [由RefSeq的,2009年2月提供]
ACAT1基因(以及对应的蛋白质)的细胞分布位置:
ACAT1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Deficiency of acetyl-CoA acetyltransferase | 0.483528744 | 15 | 20 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Kidney Failure, Chronic | 0.2 | 1 | 0 | CTD_human_RGD |
| Seizures | 0.12 | 1 | 0 | CTD_human |
| Nephrotic Syndrome | 0.08 | 1 | 0 | RGD |
| Hypertensive disease | 0.00272435 | 1 | 0 | LHGDN |
| Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Left Ventricular Hypertrophy | 0.00272435 | 1 | 0 | LHGDN |
| Alzheimer's Disease | 0.002638474 | 2 | 0 | BeFree_GAD |
| Amino Acid Metabolism, Inborn Errors | 0.002367032 | 1 | 0 | GAD |
| Hypertriglyceridemia | 0.002367032 | 1 | 0 | GAD |
| Dementia | 0.002367032 | 1 | 0 | GAD |
| Hypertriglyceridemia result | 0.002367032 | 1 | 0 | GAD |
| Leptospirosis | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.001357209 | 5 | 0 | BeFree |
| Prostate carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Arteriosclerosis | 0.001085767 | 4 | 0 | BeFree |
| Atherosclerosis | 0.001085767 | 4 | 0 | BeFree |
| Ataxia Telangiectasia | 0.000814326 | 3 | 0 | BeFree |
| Hyperlipidemia | 0.000542884 | 2 | 0 | BeFree |
| Inborn Errors of Metabolism | 0.000542884 | 2 | 0 | BeFree |
| Hepatic methionine adenosyltransferase deficiency | 0.000542884 | 2 | 0 | BeFree |
| Epithelioma | 0.000542884 | 2 | 0 | BeFree |
| Mammary Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Mammary adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
| Dry Eye Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Glioma | 0.000271442 | 1 | 0 | BeFree |
| Ketosis | 0.000271442 | 1 | 0 | BeFree |
| Myxoma | 0.000271442 | 1 | 0 | BeFree |
| Neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Paroxysmal atrial tachycardia | 0.000271442 | 1 | 0 | BeFree |
| Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
| Smallpox | 0.000271442 | 1 | 0 | BeFree |
| Teratoma | 0.000271442 | 1 | 0 | BeFree |
| Xanthomatosis | 0.000271442 | 1 | 0 | BeFree |
| Aortic Aneurysm, Thoracic | 0.000271442 | 1 | 0 | BeFree |
| Fibrosis, Liver | 0.000271442 | 1 | 0 | BeFree |
| Tyrosinemia, Type I | 0.000271442 | 1 | 0 | BeFree |
| Dryness of eye | 0.000271442 | 1 | 0 | BeFree |
| Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
| Central neuroblastoma | 0.000271442 | 1 | 0 | BeFree |
| Adenomatous polyp of colon | 0.000271442 | 1 | 0 | BeFree |
| Metastatic Prostate Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Persistent infection | 0.000271442 | 1 | 0 | BeFree |
| Chromophobe Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Papillary Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Mammary Tumorigenesis | 0.000271442 | 1 | 0 | BeFree |
| Hypermethioninemias | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Clear-cell metastatic renal cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Nonalcoholic Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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