Entity Details

Primary name ACAD8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UKU7
EntryNameACAD8_HUMAN
FullNameIsobutyryl-CoA dehydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length415
SequenceStatuscomplete
DateCreated2002-11-28
DateModified2021-06-02

Ontological Relatives

GenesACAD8

GO terms

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GOName
GO:0003995 acyl-CoA dehydrogenase activity
GO:0005759 mitochondrial matrix
GO:0006574 valine catabolic process
GO:0006629 lipid metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0050660 flavin adenine dinucleotide binding

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR006089 Acyl-CoA dehydrogenase, conserved siteSiteConserved site
IPR006091 Acyl-CoA oxidase/dehydrogenase, central domainDomainDomain
IPR009075 Acyl-CoA dehydrogenase/oxidase C-terminalDomainDomain
IPR009100 Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamilyFamilyHomologous superfamily
IPR013786 Acyl-CoA dehydrogenase/oxidase, N-terminalDomainDomain
IPR034178 Isobutyryl-CoA dehydrogenaseFamilyFamily
IPR036250 Acyl-CoA dehydrogenase-like, C-terminalFamilyHomologous superfamily
IPR037069 Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
611283 OMIMIsobutyryl-CoA dehydrogenase deficiency (IBDD)An autosomal recessive metabolic disorder characterized by plasma carnitine deficiency and elevated C4-acylcarnitine. Patients manifest variable clinical features including failure to thrive, seizures, anemia, muscular hypotonia and developmental delay. Some patients may be asymptomatic. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01675 Methacrylyl-Coenzyme ADrugbanksmall molecule
DB03147 Flavin adenine dinucleotideDrugbanksmall molecule