1rx0: Difference between revisions
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{{STRUCTURE_1rx0| PDB=1rx0 | SCENE= }} | {{STRUCTURE_1rx0| PDB=1rx0 | SCENE= }} | ||
===Crystal structure of isobutyryl-CoA dehydrogenase complexed with substrate/ligand.=== | |||
{{ABSTRACT_PUBMED_14752098}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ACAD8_HUMAN ACAD8_HUMAN]] Defects in ACAD8 are the cause of isobutyryl-CoA dehydrogenase deficiency (IBDD) [MIM:[http://omim.org/entry/611283 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).<ref>PMID:12359132</ref><ref>PMID:15505379</ref><ref>PMID:16857760</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ACAD8_HUMAN ACAD8_HUMAN]] 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.<ref>PMID:11013134</ref><ref>PMID:12359132</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:014752098</ref><references group="xtra"/> | <ref group="xtra">PMID:014752098</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Battaile, K P.]] | [[Category: Battaile, K P.]] | ||
