2f2s: Difference between revisions
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{{STRUCTURE_2f2s| PDB=2f2s | SCENE= }} | {{STRUCTURE_2f2s| PDB=2f2s | SCENE= }} | ||
===Human mitochondrial acetoacetyl-CoA thiolase=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM:[http://omim.org/entry/203750 203750]]; also known as alpha-methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.<ref>PMID:1346617</ref><ref>PMID:1715688</ref><ref>PMID:7728148</ref><ref>PMID:9744475</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/THIL_HUMAN THIL_HUMAN]] Plays a major role in ketone body metabolism. | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Thiolase|Thiolase]] | *[[Thiolase|Thiolase]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Acetyl-CoA C-acetyltransferase]] | [[Category: Acetyl-CoA C-acetyltransferase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
