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This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的线粒体三功能蛋白,其催化最后三个步骤的长链脂肪酸的线粒体β-氧化的α亚基。线粒体膜结合heterocomplex由四个阿尔法和四个β亚基,与α亚基催化3-羟酰-CoA脱氢酶和烯酰-CoA水合酶活性。突变这个基因导致三官能蛋白质缺乏或不足LCHAD。线粒体三官能蛋白的α和β亚基的基因位于彼此相邻的在一个头 - 头方向人类基因组。 [由RefSeq的,2008年7月提供]
HADHA基因(以及对应的蛋白质)的细胞分布位置:
HADHA基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 | 
| Trifunctional Protein Deficiency With Myopathy And Neuropathy | 0.243800186 | 17 | 1 | BeFree_CTD_human_UNIPROT | 
| Acute fatty liver of pregnancy | 0.123452799 | 5 | 0 | BeFree_GAD_ORPHANET | 
| Degenerative polyarthritis | 0.12 | 1 | 0 | CTD_human | 
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human | 
| Fetal Growth Retardation | 0.08 | 1 | 0 | RGD | 
| HELLP Syndrome | 0.003181358 | 4 | 0 | BeFree_GAD | 
| Cardiomyopathies | 0.002995792 | 2 | 0 | BeFree_LHGDN | 
| Sudden infant death syndrome | 0.00272435 | 1 | 0 | LHGDN | 
| Malignant neoplasm of lung | 0.002638474 | 2 | 0 | BeFree_GAD | 
| Malignant neoplasm of urinary bladder | 0.002367032 | 1 | 0 | GAD | 
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD | 
| Obesity | 0.002367032 | 1 | 0 | GAD | 
| Malignant neoplasm of prostate | 0.002367032 | 1 | 0 | GAD | 
| Hypoglycemia | 0.001628651 | 6 | 0 | BeFree | 
| Liver diseases | 0.000814326 | 3 | 0 | BeFree | 
| Reye-Like Syndrome | 0.000542884 | 2 | 0 | BeFree | 
| Abetalipoproteinemia | 0.000271442 | 1 | 0 | BeFree | 
| DiGeorge Syndrome | 0.000271442 | 1 | 0 | BeFree | 
| Exanthema | 0.000271442 | 1 | 0 | BeFree | 
| Fatty Liver | 0.000271442 | 1 | 0 | BeFree | 
| Hydrops Fetalis | 0.000271442 | 1 | 0 | BeFree | 
| Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree | 
| Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree | 
| Metabolic Diseases | 0.000271442 | 1 | 0 | BeFree | 
| Peripheral Neuropathy | 0.000271442 | 1 | 0 | BeFree | 
| Pregnancy Complications | 0.000271442 | 1 | 0 | BeFree | 
| Respiratory Distress Syndrome, Adult | 0.000271442 | 1 | 0 | BeFree | 
| Transient hyperphenylalaninemia | 0.000271442 | 1 | 0 | BeFree | 
| Carnitine-Acylcarnitine Translocase Deficiency | 0.000271442 | 1 | 0 | BeFree | 
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree | 
| Spots on skin | 0.000271442 | 1 | 0 | BeFree | 
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