Medium/short-chain L-3-hydroxyacl-CoA dehydrogenase deficiency（中短链l-3-羟烷基辅酶A脱氢酶缺乏） |
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HADH基因编码羟酰辅酶A脱氢酶，该酶与其他酶共同参与脂肪酸氧化，将大分子脂肪酸和食物中的脂肪酸转化为能量。该酶对于心脏、肝脏、肾脏、肌肉和胰腺等器官的正常功能尤为重要。
已发现3种突变，会导致羟酰辅酶A脱氢酶缺乏症。基因突变导致酶的空间构象发生变化，使其失活。该酶缺乏使得脂肪酸无法正常代谢，无法为机体正常供能，引发相关组织器官功能失调
| 基因名称 | 基因全名 | 基因位置 | 外显子个数 | CDS长度 |
|---|---|---|---|---|
| HADH | hydroxyacyl-CoA dehydrogenase | 4q22-q26 | 9 | 约2033 bp |
| 基因摘要 | This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]. | |||