{"symbol":"ACAT1","synonyms":["ACAT","T2","MAT","THIL"],"name":"acetyl-CoA acetyltransferase 1","description":"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]","ncbiEntrezGeneId":38,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/38","proteins":[{"symbol":"THIL_HUMAN","href":"/api/1.0/protein/THIL_HUMAN"}],"hgncRootFamilies":[]}