Short-chain acyl-CoA dehydrogenase deficiency（短链酰基辅酶A脱氢酶缺乏） |
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| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| ACADS | acyl-CoA dehydrogenase, C-2 to C-3 short chain | 12q24.31 | 10 | 约1947 bp |
| 基因摘要 | 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]. | |||