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MGP001407

UniProt Annotations

Entry Information
Gene Namehydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
Protein EntryECHA_HUMAN
UniProt IDP40939
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P40939-1; Sequence=Displayed; Name=2; IsoId=P40939-2; Sequence=VSP_054358, VSP_054359, VSP_054360, VSP_054361; Note=No experimental confirmation available.;
Catalytic Activity(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O.
Catalytic ActivityA long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH.
DiseaseLong-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. {ECO:0000269|PubMed:7811722, ECO:0000269|PubMed:9266371}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMaternal acute fatty liver of pregnancy (AFLP) [MIM:609016]: 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). {ECO:0000269|PubMed:7846063}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseTrifunctional 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 three enzyme activities of the TFP complex. {ECO:0000269|PubMed:9739053}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionBifunctional subunit.
InteractionO95166:GABARAP; NbExp=5; IntAct=EBI-356720, EBI-712001; Q9H0R8:GABARAPL1; NbExp=4; IntAct=EBI-356720, EBI-746969; P60520:GABARAPL2; NbExp=4; IntAct=EBI-356720, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=4; IntAct=EBI-356720, EBI-373144;
PathwayLipid metabolism; fatty acid beta-oxidation.
SimilarityIn the central section; belongs to the 3-hydroxyacyl- CoA dehydrogenase family. {ECO:0000305}.
SimilarityIn the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitOctamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. {ECO:0000269|PubMed:8163672}.
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