ACAT1, Official Symbol ACAT1provided by HGNC Official Full Name acetyl-CoA acetyltransferase 1provided by HGNC Primary source HGNC:HGNC:93 See related Ensembl:ENSG00000075239 MIM:607809; AllianceGenome:HGNC:93 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as T2; MAT; ACAT; THIL Summary 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] Annotation information Note: ACAT1 (Gene ID: 38) and SOAT1 (Gene ID: 6646) share the ACAT1 symbol/alias in common. ACAT1 is a widely used alternative name for sterol O-acyltransferase 1 (SOAT1), which can be confused with the official symbol for ACAT1 (acetyl-CoA acetyltransferase 1, GeneID 38). [01 Jun 2018] Expression Broad expression in liver (RPKM 166.9), kidney (RPKM 164.2) and 24 other tissues See more Orthologs mouse all