Aliases for ACAT1 Gene
External Ids for ACAT1 Gene
Previous Symbols 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 lipid metabolism disorder and thiolase deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and coenzyme binding. An important paralog of this gene is ACAT2.
UniProtKB/Swiss-Prot for ACAT1 Gene
Plays a major role in ketone body metabolism