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 Alpha-Methylacetoacetic Aciduria and Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Valine, leucine and isoleucine degradation and Mitochondrial LC-Fatty Acid Beta-Oxidation. Gene Ontology (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 Summary for ACAT1 Gene
This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (PubMed:1715688, PubMed:7728148, PubMed:9744475). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (PubMed:1715688, PubMed:7728148, PubMed:9744475). The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA (PubMed:17371050). Thereby, it plays a major role in ketone body metabolism (PubMed:17371050, PubMed:1715688, PubMed:7728148, PubMed:9744475).