View source for ACAD8

{{Infobox_gene}}
'''Isobutyryl-CoA dehydrogenase, mitochondrial''' is an [[enzyme]] that in [[human]]s is encoded by the ''ACAD8'' [[gene]] on chromosome 11.<ref name="pmid10524212">{{cite journal | vauthors = Telford EA, Moynihan LM, Markham AF, Lench NJ | title = Isolation and characterisation of a cDNA encoding the precursor for a novel member of the acyl-CoA dehydrogenase gene family | journal = Biochimica et Biophysica Acta | volume = 1446 | issue = 3 | pages = 371–6 | date = Sep 1999 | pmid = 10524212 | pmc =  | doi = 10.1016/s0167-4781(99)00102-5 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ACAD8 acyl-Coenzyme A dehydrogenase family, member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27034| accessdate = }}</ref>

The protein encoded by ACAD8 is a mitochondrial protein belongs to the [[acyl-CoA]] [[dehydrogenase]] family of enzymes, which function to catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or [[branched-chain amino acid]]s. ACAD8 functions in catabolism of the branched-chain amino acid valine.

== Structure ==
ACAD8 functions as a homotetramer and has an overall structure is similar to other acyl-CoA dehydrogenases. The functional protein contains an NH2-terminal alpha-helical domain, a medial beta-strand domain and a C-terminal alpha-helical domain.<ref>{{cite journal |vauthors=Battaile KP, Nguyen TV, Vockley J, Kim JJ |title=Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases |journal=J. Biol. Chem. |volume=279 |issue=16 |pages=16526–34 |year=2004 |pmid=14752098 |doi=10.1074/jbc.M400034200 |url=}}</ref>

== Clinical significance ==

Mutations in ACAD8 have been linked to [[isobutyryl-CoA dehydrogenase deficiency]].<ref name="ReferenceA">{{cite journal |vauthors=Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J |title=Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans |journal=Mol. Genet. Metab. |volume=77 |issue=1–2 |pages=68–79 |year=2002 |pmid=12359132 |doi= 10.1016/S1096-7192(02)00152-X|url=}}</ref> Most patients with isobutyryl-CoA dehydrogenase deficiency are asymptotic, but children have also been observed to develop [[dilated cardiomyopathy]].<ref>Isobutyryl-CoA dehydrogenase deficiency. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=79159. Accessed 2/8/2010.</ref>

== Function ==

ACAD8 is an isobutyryl-CoA [[dehydrogenase]] that functions in the catabolism of [[branched-chain amino acid]]s including [[valine]], and shows high reactivity toward isobutyryl-CoA.<ref name="ReferenceA"/> ACAD8 is responsible for the third step in the breakdown of valine and converts isobutyryl-CoA into methylacrylyl-CoA.

== References ==
{{reflist}}

==External links==
* {{UCSC gene info|ACAD8}}

== Further reading ==
{{refbegin | 2}}
* {{cite journal | vauthors = Näär AM, Beaurang PA, Zhou S, Abraham S, Solomon W, Tjian R | title = Composite co-activator ARC mediates chromatin-directed transcriptional activation | journal = Nature | volume = 398 | issue = 6730 | pages = 828–32 | date = Apr 1999 | pmid = 10235267 | doi = 10.1038/19789 }}
* {{cite journal | vauthors = Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F | title = Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism | journal = American Journal of Human Genetics | volume = 67 | issue = 5 | pages = 1095–103 | date = Nov 2000 | pmid = 11013134 | pmc = 1288551 | doi = 10.1086/303105 }}
* {{cite journal | vauthors = Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J | title = Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans | journal = Molecular Genetics and Metabolism | volume = 77 | issue = 1–2 | pages = 68–79 | year = 2003 | pmid = 12359132 | doi = 10.1016/S1096-7192(02)00152-X }}
* {{cite journal | vauthors = Battaile KP, Nguyen TV, Vockley J, Kim JJ | title = Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases | journal = The Journal of Biological Chemistry | volume = 279 | issue = 16 | pages = 16526–34 | date = Apr 2004 | pmid = 14752098 | doi = 10.1074/jbc.M400034200 }}
* {{cite journal | vauthors = Ma J, Dempsey AA, Stamatiou D, Marshall KW, Liew CC | title = Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects | journal = Atherosclerosis | volume = 191 | issue = 1 | pages = 63–72 | date = Mar 2007 | pmid = 16806233 | doi = 10.1016/j.atherosclerosis.2006.05.032 }}
{{refend}}

{{PDB Gallery|geneid=27034}}

[[Category:Human proteins]]


{{gene-11-stub}}