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.,ACAT1,ACAT,MAT,T2,THIL,Cancer,Signal Transduction,Endocrine & Metabolism,Mitochondrial metabolism,Mitochondrial markers,Amino acid metabolism,Lipid Metabolism,ACAT1