Entity Details

Primary name ACDSB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP45954
EntryNameACDSB_HUMAN
FullNameShort/branched chain specific acyl-CoA dehydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length432
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesACADSB

GO terms

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GOName
GO:0003853 2-methylacyl-CoA dehydrogenase activity
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006550 isoleucine catabolic process
GO:0006631 fatty acid metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0016937 short-branched-chain-acyl-CoA dehydrogenase activity
GO:0042802 identical protein binding
GO:0050660 flavin adenine dinucleotide binding
GO:0102035 isobutyryl-CoA:FAD oxidoreductase activity

Subcellular Location

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Subcellular Location
Mitochondrion matrix

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
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
610006 OMIMShort/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00167 IsoleucineDrugbanksmall molecule
DB00313 Valproic acidDrugbanksmall molecule

Interactions

0 interactions

InteractorPartnerSourcesPublicationsLink