检测编号：NA0140002

基因 HADHA 与疾病

HADHA编码的长链羟酰基辅酶A脱氢酶还是线粒体三功能蛋白一个亚基，线粒体三功能蛋白是一个多酶复合体，具有3种酶活性。研究发现数个突变位点，该酶活性缺失使线粒体内长链脂肪酸氧化障碍，影响供能。

基因名称	基因全名	基因位置	外显子个数	CDS长度
HADHA	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	2p23	20	约3037 bp
基因摘要	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].

基因 HADHB 与疾病

HADHB基因的产物是线粒体三功能蛋白的一个亚基，线粒体三功能蛋白是一个多酶复合体，具有3种酶活性。研究发现至少26个HADHB突变位点，该酶活性缺失使线粒体内长链脂肪酸氧化障碍，影响供能。

基因名称	基因全名	基因位置	外显子个数	CDS长度
HADHB	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	2p23	17	约2271 bp
基因摘要	This gene encodes the beta 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 beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. 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. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].