Acetyl-Coa Acetyltransferase-2 Deficiency, also known as cytosolic acetoacetyl-coa thiolase deficiency, is related to atherosclerosis susceptibility and hypercholesterolemia, familial, 1. An important gene associated with Acetyl-Coa Acetyltransferase-2 Deficiency is ACAT2 (Acetyl-CoA Acetyltransferase 2). Affiliated tissues include small intestine, and related phenotypes are hypotonia and chorea