Aliases for ACAT1 Gene
External Ids for ACAT1 Gene
Previous HGNC Symbols for ACAT1 Gene
Previous GeneCards Identifiers for ACAT1 Gene
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]
GeneCards Summary for ACAT1 Gene
ACAT1 (Acetyl-CoA Acetyltransferase 1) is a Protein Coding gene. Diseases associated with ACAT1 include ketothiolase deficiency and hypermethioninemia. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ACAT2.
UniProtKB/Swiss-Prot for ACAT1 Gene
Plays a major role in ketone body metabolism
Acyl-coenzyme A (CoA):cholesterol acyltransferases (ACATs), EC 220.127.116.11, are integral membrane proteins that catalyze the conversion of cholesterol to cholesteryl esters. ACATs have been implicated in the pathology of atherosclerosis and Alzheimer's disease.