基因名：
ACAT1
产品别名：
ACAT； MAT； T2； THIL； ACAT1； acetyl-CoA acetyltransferase 1； acetyl-CoA acetyltransferase 1； acetyl-CoA acetyltransferase, mitochondrial； acetoacetyl Coenzyme A thiolase； acetoacetyl-CoA thiolase； acetyl-Coenzyme A acetyltransferase 1； mitochondrial acetoacetyl-CoA thiolase； testicular tissue protein Li 198； 乙酰辅酶A乙酰转移酶1(ACAT1)； 乙酰辅酶A酰基转移酶1；
背景信息：
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].
