Anti-ACAT1

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 (GeneID 38) and SOAT1 (GeneID 6646) loci share the ACAT1 symbol/alias in common. ACAT1 is widely used alternative name for acyl-Coenzyme A: cholesterol acyltransferase 1 (SOAT1) conflicting with the official symbol for acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) (ACAT1). [04 Jun 2007]