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). Note: This description may include information from UniProtKB.
Protein type: Acetyltransferase; Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - tryptophan; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - butanoate; Carbohydrate Metabolism - propanoate; EC; EC; Lipid Metabolism - fatty acid; Lipid Metabolism - fatty acid elongation in mitochondria; Lipid Metabolism - unsaturated fatty acid biosynthesis; Lyase; Mitochondrial; Other Amino Acids Metabolism - beta-alanine; Oxidoreductase; Secondary Metabolites Metabolism - limonene and pinene degradation
Chromosomal Location of Human Ortholog: 2p23.3
Cellular Component:  mitochondrial inner membrane; mitochondrial nucleoid; mitochondrion
Molecular Function:  3-hydroxyacyl-CoA dehydrogenase activity; acetyl-CoA C-acetyltransferase activity; fatty-acyl-CoA binding; long-chain-enoyl-CoA hydratase activity; NAD binding; protein binding; protein-containing complex binding
Biological Process:  cardiolipin acyl-chain remodeling; fatty acid beta-oxidation; response to drug; response to insulin
Disease: Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency; Trifunctional Protein Deficiency
Reference #:  P40939 (UniProtKB)
Alt. Names/Synonyms: 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; 3-oxoacyl-CoA thiolase; 78 kDa gastrin-binding protein; ECHA; GBP; HADH; HADHA; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit; LCHAD; Long chain 3-hydroxyacyl-CoA dehydrogenase; Long-chain enoyl-CoA hydratase; MGC1728; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; mitochondrial trifunctional enzyme, alpha subunit; mitochondrial trifunctional protein, alpha subunit; MTPA; TP-alpha; Trifunctional enzyme subunit alpha, mitochondrial
Gene Symbols: HADHA
Molecular weight: 83,000 Da
Basal Isoelectric point: 9.16  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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