background:
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009].
Function:
Plays a major role in ketone body metabolism.
Subunit:
Homotetramer.
Subcellular Location:
Mitochondrion.
DISEASE:
Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD) [MIM: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.
Similarity:
Belongs to the thiolase family.
Database links:
Entrez Gene: 38 Human
Entrez Gene: 110446 Mouse
Entrez Gene: 25014 Rat
Omim: 607809 Human
SwissProt: P24752 Human
SwissProt: Q8QZT1 Mouse
SwissProt: P17764 Rat
Unigene: 232375 Human
Unigene: 293233 Mouse
Unigene: 4054 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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