人 HADHB 抗体对
01AB02608
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta (HADHB) is a subunit of the mitochondrial trifunctional enzyme (MTP) located in the inner mitochondrial membrane. It forms a heterooctamer with HADHA to catalyze the final three steps of long-chain fatty acid beta-oxidation, specifically providing long-chain 3-ketoacyl-CoA thiolase activity. This process is vital for energy production in the heart, liver, and skeletal muscle. Clinically, biallelic mutations in HADHB result in mitochondrial trifunctional protein deficiency, characterized by hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis. Furthermore, heterozygous maternal carriers of a fetus with HADHB mutations are at increased risk for developing acute fatty liver of pregnancy (AFLP) and HELLP syndrome.
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技术参数
- 靶点基因名
- HADHB
- 蛋白别名
- hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta; HADHB
- UniProt
- P55084
- 物种
- Human
产品详情
- 靶点名称
- HADHB
- 蛋白名称
- hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
- 蛋白别名
- Trifunctional enzyme subunit beta; mitochondrial; TP-beta) [Includes: 3-ketoacyl-CoA thiolase; Acetyl-CoA acyltransferase; Beta-ketothiolase]
- 靶点基因名
- HADHB
- UniProt
- P55084
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta (HADHB) is a subunit of the mitochondrial trifunctional enzyme (MTP) located in the inner mitochondrial membrane. It forms a heterooctamer with HADHA to catalyze the final three steps of long-chain fatty acid beta-oxidation, specifically providing long-chain 3-ketoacyl-CoA thiolase activity. This process is vital for energy production in the heart, liver, and skeletal muscle. Clinically, biallelic mutations in HADHB result in mitochondrial trifunctional protein deficiency, characterized by hypoketotic hypoglycemia, cardiomyopathy, and rhabdomyolysis. Furthermore, heterozygous maternal carriers of a fetus with HADHB mutations are at increased risk for developing acute fatty liver of pregnancy (AFLP) and HELLP syndrome.