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MGP001408

UniProt Annotations

Entry Information
Gene Namehydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
Protein EntryECHB_HUMAN
UniProt IDP55084
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P55084-1; Sequence=Displayed; Name=2; IsoId=P55084-2; Sequence=VSP_054426; Note=No experimental confirmation available.;
Catalytic ActivityAcyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA. {ECO:0000269|PubMed:7958339}.
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:12754706, ECO:0000269|PubMed:8651282, ECO:0000269|PubMed:9259266}. Note=The disease is caused by mutations affecting the gene represented in this entry.
InteractionQ9H0R8:GABARAPL1; NbExp=4; IntAct=EBI-356635, EBI-746969;
PathwayLipid metabolism; fatty acid beta-oxidation.
Sequence CautionSequence=BAA22061.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the thiolase family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000269|PubMed:21527675}. Mitochondrion inner membrane {ECO:0000269|PubMed:21527675}. Mitochondrion outer membrane {ECO:0000269|PubMed:21527675}. Endoplasmic reticulum {ECO:0000269|PubMed:21527675}.
SubunitOctamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin. {ECO:0000269|PubMed:21527675, ECO:0000269|PubMed:8163672}.
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