HADHA Antibody – Mouse Monoclonal

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]

HADHA: Bifunctional subunit. Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency). The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all enzyme activities of the TFP complex. Defects in HADHA are the cause of long-chain 3-hydroxyl- CoA dehydrogenase deficiency (LCHAD deficiency). The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long- chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. Defects in HADHA are a cause of maternal acute fatty liver of pregnancy (AFLP). AFLP is a severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).

Protein type: Lipid Metabolism - fatty acid elongation in mitochondria; Amino Acid Metabolism - tryptophan; Secondary Metabolites Metabolism - limonene and pinene degradation; Lipid Metabolism - unsaturated fatty acid biosynthesis; EC 1.1.1.211; Carbohydrate Metabolism - propanoate; Lyase; EC 4.2.1.17; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; Acetyltransferase; Oxidoreductase; Lipid Metabolism - fatty acid; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - lysine degradation; Other Amino Acids Metabolism - beta-alanine

Chromosomal Location of Human Ortholog: 2p23

Cellular Component: fatty acid beta-oxidation multienzyme complex; mitochondrial inner membrane; mitochondrion

Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; acetyl-CoA C-acetyltransferase activity; acyl-CoA binding; enoyl-CoA hydratase activity; long-chain-3-hydroxyacyl-CoA dehydrogenase activity; long-chain-enoyl-CoA hydratase activity; NAD binding; protein binding; protein complex binding

Biological Process: fatty acid beta-oxidation; response to drug; response to insulin stimulus

Disease: Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency; Trifunctional Protein Deficiency