Description: Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_000182): 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]. Transcript (Including UTRs) Position: hg19 chr2:26,413,504-26,467,594 Size: 54,091 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr2:26,414,119-26,467,464 Size: 53,346 Coding Exon Count: 20
ID:ECHA_HUMAN DESCRIPTION: RecName: Full=Trifunctional enzyme subunit alpha, mitochondrial; AltName: Full=78 kDa gastrin-binding protein; AltName: Full=TP-alpha; Includes: RecName: Full=Long-chain enoyl-CoA hydratase; EC=4.2.1.17; Includes: RecName: Full=Long chain 3-hydroxyacyl-CoA dehydrogenase; EC=1.1.1.211; Flags: Precursor; FUNCTION: Bifunctional subunit. CATALYTIC ACTIVITY: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O. CATALYTIC ACTIVITY: A long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH. PATHWAY: Lipid metabolism; fatty acid beta-oxidation. SUBUNIT: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. INTERACTION: O95166:GABARAP; NbExp=5; IntAct=EBI-356720, EBI-712001; Q9H0R8:GABARAPL1; NbExp=4; IntAct=EBI-356720, EBI-746969; P60520:GABARAPL2; NbExp=3; IntAct=EBI-356720, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=4; IntAct=EBI-356720, EBI-373144; SUBCELLULAR LOCATION: Mitochondrion. DISEASE: Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. 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. DISEASE: Defects in HADHA are the cause of long-chain 3-hydroxyl- CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]. 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. DISEASE: Defects in HADHA are a cause of maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]. 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). SIMILARITY: In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. SIMILARITY: In the central section; belongs to the 3-hydroxyacyl- CoA dehydrogenase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HADHA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P40939
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
