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MT000954

UniProt Annotations

Entry Information

Gene Name	acyl-CoA dehydrogenase family, member 8
Protein Entry	ACAD8_HUMAN
UniProt ID	Q9UKU7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UKU7-1; Sequence=Displayed; Name=2; IsoId=Q9UKU7-2; Sequence=VSP_055780, VSP_055781; Note=No experimental confirmation available.; Name=3; IsoId=Q9UKU7-3; Sequence=VSP_055779, VSP_055782; Note=No experimental confirmation available.;
Catalytic Activity	Isobutyryl-CoA + ETF = methylacrylyl-CoA + reduced ETF.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269\|PubMed:14752098};
Disease	Isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:611283]: The symptoms of IBDD generally appear until late in infancy or in childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart (dilated cardiomyopathy), seizures, and low numbers of red blood cells (anemia). {ECO:0000269\|PubMed:12359132, ECO:0000269\|PubMed:15505379, ECO:0000269\|PubMed:16857760}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Has very high activity toward isobutyryl-CoA. Is an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Plays a role in transcriptional coactivation within the ARC complex. {ECO:0000269\|PubMed:12359132}.
Pathway	Amino-acid degradation; L-valine degradation.
Similarity	Belongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:11013134}.
Subunit	Homotetramer, formed by a dimer of dimers. Subunit of the large multiprotein complex ARC/DRIP. {ECO:0000269\|PubMed:10235267, ECO:0000269\|PubMed:11013134, ECO:0000269\|PubMed:14752098}.
Tissue Specificity	Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.