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acat1

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Official Full Name
acetyl-CoA acetyltransferase 1
Background
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.
Synonyms
ACAT1; acetyl-CoA acetyltransferase 1; ACAT, acetyl Coenzyme A acetyltransferase 1; acetyl-CoA acetyltransferase, mitochondrial; acetoacetyl Coenzyme A thiolase; THIL; acetoacetyl-CoA thiolase; acetyl-Coenzyme A acetyltransferase 1; mitochondrial acetoac; mitochondrial acetoacetyl-CoA thiolase; T2; MAT; ACAT; RATACAL; acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase); fd16h07; fd20g06; zgc:86832; wu:fd16h07; wu:fd20g06

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