NP_000173.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
9,054 Da
NCBI Official Full Name
trifunctional enzyme subunit alpha, mitochondrial
NCBI Official Synonym Full Names
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
NCBI Official Synonym Symbols
GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA [Similar Products]
NCBI Protein Information
trifunctional enzyme subunit alpha, mitochondrial
UniProt Protein Name
Trifunctional enzyme subunit alpha, mitochondrial
UniProt Synonym Protein Names
78 kDa gastrin-binding protein; TP-alphaIncluding the following 2 domains:Long-chain enoyl-CoA hydratase (EC:4.2.1.17)Long chain 3-hydroxyacyl-CoA dehydrogenase (EC:1.1.1.211)
UniProt Synonym Gene Names
NCBI Summary for HADHA
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]
UniProt Comments for HADHA
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: 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 1.1.1.211; EC 4.2.1.17; 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: extracellular matrix; mitochondrial fatty acid beta-oxidation multienzyme complex; mitochondrial inner membrane; mitochondrion
Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; acetyl-CoA C-acetyltransferase activity; enoyl-CoA hydratase activity; fatty-acyl-CoA binding; long-chain-3-hydroxyacyl-CoA dehydrogenase activity; long-chain-enoyl-CoA hydratase activity; NAD binding; protein binding; protein complex binding
Biological Process: cardiolipin acyl-chain remodeling; fatty acid beta-oxidation; response to drug; response to insulin stimulus
Disease: Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency; Trifunctional Protein Deficiency
Research Articles on HADHA
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Products associated with HADHA elisa kit
Pathways associated with HADHA elisa kit
Diseases associated with HADHA elisa kit
Organs/Tissues associated with HADHA elisa kit
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