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This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的中链特异性的(C4至C12的直链)酰基辅酶A脱氢酶。的同源四聚体酶催化线粒体脂肪酸β-氧化途径的第一步。缺陷在该基因导致中链酰基辅酶A脱氢酶缺乏症,这种疾病的特征是肝功能障碍,空腹低血糖,和脑病,这可能会导致婴儿死亡。已发现该基因编码不同亚型选择性剪接转录变异体。 [由RefSeq的,2008年7月提供]
ACADM基因(以及对应的蛋白质)的细胞分布位置:
ACADM基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 0.579902471 | 35 | 26 | BeFree_CLINVAR_CTD_human_GAD_MGD_ORPHANET_UNIPROT |
Obesity | 0.12 | 1 | 0 | CTD_human |
Weight Gain | 0.12 | 1 | 0 | CTD_human |
Liver Failure | 0.12 | 1 | 0 | CTD_human |
Necrotizing Enterocolitis | 0.12 | 1 | 0 | CTD_human |
Non-alcoholic Fatty Liver Disease | 0.08 | 1 | 0 | RGD |
Lipid Metabolism, Inborn Errors | 0.004734064 | 2 | 0 | GAD |
Liver Failure, Acute | 0.00272435 | 1 | 0 | LHGDN |
Sudden death | 0.002367032 | 1 | 0 | GAD |
Myopathy | 0.002367032 | 1 | 0 | GAD |
Lipid Metabolism Disorders | 0.002367032 | 1 | 0 | GAD |
Deficiency of butyryl-CoA dehydrogenase | 0.002367032 | 1 | 0 | GAD |
Sudden infant death syndrome | 0.000814326 | 3 | 0 | BeFree |
Hypoglycemia | 0.000542884 | 2 | 0 | BeFree |
Exanthema | 0.000271442 | 1 | 0 | BeFree |
Vomiting | 0.000271442 | 1 | 0 | BeFree |
Acute gastric mucosal erosion | 0.000271442 | 1 | 0 | BeFree |
Spots on skin | 0.000271442 | 1 | 0 | BeFree |
Idiopathic erosive/hemorrhagic gastritis | 0.000271442 | 1 | 0 | BeFree |
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