HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha)
- symbol:
- HADHA
- locus group:
- protein-coding gene
- location:
- 2p23.3
- gene_family:
- alias symbol:
- GBP|LCEH|LCHAD|MTPA
- alias name:
- gastrin-binding protein|long-chain…
- entrez id:
- 3030
- ensembl gene id:
- ENSG00000084754
- ucsc gene id:
- uc002rgy.3
- refseq accession:
- NM_000182
- hgnc_id:
- HGNC:4801
- approved reserved:
- 1994-12-16
HADHA基因编码线粒体三功能蛋白的α亚基，该蛋白是脂肪酸β氧化的关键酶复合体，属于HADHA/HADHB基因家族。这个基因家族共同参与长链脂肪酸的分解代谢，为机体提供能量。HADHA蛋白具有三种酶活性：长链烯酰辅酶A水合酶、长链3-羟基酰基辅酶A脱氢酶和长链3-酮酰基辅酶A硫解酶，这些功能对心脏、肝脏和肌肉等依赖脂肪酸供能的组织尤为重要。HADHA基因突变会导致三功能蛋白缺乏症，引发严重代谢紊乱，表现为低血糖、心肌病、肝功能异常和神经肌肉症状，婴儿期发病者死亡率高。某些突变如G1528C与妊娠期急性脂肪肝和HELLP综合征相关。HADHA表达异常会影响整个脂肪酸氧化途径，过表达可能改变细胞能量代谢平衡，而表达降低则导致有毒代谢中间体积累，损害线粒体功能。该基因还与胰岛素抵抗和糖尿病有关，因其参与脂质代谢调控。HADHA/HADHB基因家族成员均定位于线粒体基质，形成四聚体复合物，在能量代谢中发挥协同作用。研究这个基因有助于理解代谢性疾病机制并开发治疗策略。
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]
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]
基因本体信息
HADHA基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
HADHA基因的本体（GO）信息：
| 名称 |
|---|
| 1200 Carbon metabolism [PATH:hsa01200] |
| 1212 Fatty acid metabolism [PATH:hsa01212] |
| 640 Propanoate metabolism [PATH:hsa00640] |
| 650 Butanoate metabolism [PATH:hsa00650] |
| 62 Fatty acid elongation [PATH:hsa00062] |
| 71 Fatty acid degradation [PATH:hsa00071] |
| 1040 Biosynthesis of unsaturated fatty acids [PATH:hsa01040] |
| 280 Valine |
| 310 Lysine degradation [PATH:hsa00310] |
| 380 Tryptophan metabolism [PATH:hsa00380] |
| 410 beta-Alanine metabolism [PATH:hsa00410] |
| 名称 |
|---|
| Acyl chain remodeling of CL |
| Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA |
| Beta oxidation of hexanoyl-CoA to butanoyl-CoA |
| Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA |
| Beta oxidation of myristoyl-CoA to lauroyl-CoA |
| Beta oxidation of octanoyl-CoA to hexanoyl-CoA |
| Beta oxidation of palmitoyl-CoA to myristoyl-CoA |
| Fatty acid, triacylglycerol, and ketone body metabolism |
| Glycerophospholipid biosynthesis |
| Metabolism |
| Metabolism of lipids and lipoproteins |
| Mitochondrial Fatty Acid Beta-Oxidation |
| mitochondrial fatty acid beta-oxidation of saturated fatty acids |
| mitochondrial fatty acid beta-oxidation of unsaturated fatty acids |
| Phospholipid metabolism |
| 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 |
| Myocardial Ischemia | 0.12 | 1 | 0 | CTD_human |
| Degenerative polyarthritis | 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 |
| Obesity | 0.002367032 | 1 | 0 | GAD |
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