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This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
[中文简述(自动翻译):]  该基因编码一个四聚体线粒体黄素蛋白,它是酰基辅酶A脱氢酶家族的一个成员。这种酶催化线粒体脂肪酸β-氧化途径的第一步。在这种基因突变与短链酰基辅酶A脱氢酶(SCAD)缺乏症相关联。选择性剪接导致两个变体,其编码不同的亚型。 [由RefSeq的,2014年10月提供]
ACADS基因(以及对应的蛋白质)的细胞分布位置:
ACADS基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Deficiency of butyryl-CoA dehydrogenase | 0.562714419 | 11 | 18 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 0.005005506 | 3 | 0 | BeFree_GAD |
Myopathy | 0.00272435 | 1 | 0 | LHGDN |
Prader-Willi Syndrome | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002367032 | 1 | 1 | GAD |
Non-alcoholic Fatty Liver Disease | 0.002367032 | 1 | 1 | GAD |
Metabolic Syndrome X | 0.002367032 | 1 | 0 | GAD |
Bipolar Disorder | 0.000271442 | 1 | 0 | BeFree |
Failure to Thrive | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
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