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MGP001409

UniProt Annotations

Entry Information
Gene Namehydroxyacyl-CoA dehydrogenase
Protein EntryHCDH_HUMAN
UniProt IDQ16836
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16836-1; Sequence=Displayed; Name=2; IsoId=Q16836-2; Sequence=VSP_016551, VSP_016552; Note=Ref.2 (AAB58153) sequence is in conflict in positions: 41:L->P, 56:R->H. {ECO:0000305}; Name=3; IsoId=Q16836-3; Sequence=VSP_016552; Note=No experimental confirmation available.;
Catalytic Activity(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.
Disease3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: A metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. {ECO:0000269|Ref.11}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseFamilial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. {ECO:0000269|PubMed:11489939}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays an essential role in the mitochondrial beta- oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
PathwayLipid metabolism; fatty acid beta-oxidation.
PtmSuccinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity). {ECO:0000250}.
SimilarityBelongs to the 3-hydroxyacyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomodimer. {ECO:0000269|PubMed:10231530, ECO:0000269|PubMed:10840044}.
Tissue SpecificityExpressed in liver, kidney, pancreas, heart and skeletal muscle.
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