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MGP001689

UniProt Annotations

Entry Information
Gene Nameisovaleryl-CoA dehydrogenase
Protein EntryIVD_HUMAN
UniProt IDP26440
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P26440-1; Sequence=Displayed; Name=2; IsoId=P26440-2; Sequence=VSP_045193; Note=No experimental confirmation available.;
Catalytic ActivityIsovaleryl-CoA + electron-transfer flavoprotein = 3-methylcrotonyl-CoA + reduced electron-transfer flavoprotein.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:9214289};
DiseaseIsovaleric acidemia (IVA) [MIM:243500]: A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. {ECO:0000269|PubMed:2063866, ECO:0000269|PubMed:22004070, ECO:0000269|PubMed:22350545, ECO:0000269|PubMed:23587913, ECO:0000269|PubMed:9665741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3.
Sequence CautionSequence=BAG53799.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW92413.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW92414.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW92415.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomotetramer. {ECO:0000269|PubMed:9214289}.
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