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The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质被定位到线粒体内膜,其中它催化线粒体脂肪酸β-氧化途径的第一步。此酰基辅酶A脱氢酶是特定的长链和极长链脂肪酸。在这个基因产物的缺乏降低心肌脂肪酸β-氧化,并与心肌病。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的,2008年7月提供]
ACADVL基因(以及对应的蛋白质)的细胞分布位置:
ACADVL基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Very long chain acyl-CoA dehydrogenase deficiency | 0.44 | 4 | 15 | CTD_human_MGD_ORPHANET_UNIPROT |
Pearson's marrow-pancreas syndrome | 0.121900093 | 7 | 32 | BeFree_CLINVAR |
Anoxia | 0.12 | 1 | 0 | CTD_human |
Heat Stress Disorders | 0.08 | 1 | 0 | RGD |
Non-alcoholic Fatty Liver Disease | 0.08 | 2 | 0 | RGD |
Metabolic Syndrome X | 0.08 | 1 | 0 | RGD |
Adrenal Cortical Adenoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Fatty Liver | 0.000271442 | 1 | 0 | BeFree |
Cardiac Arrest | 0.000271442 | 1 | 0 | BeFree |
Liver diseases | 0.000271442 | 1 | 0 | BeFree |
Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
Steatohepatitis | 0.000271442 | 1 | 0 | BeFree |
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