Acetyl-CoA acetyltransferase, mitochondrial also known as acetoacetyl-CoA thiolase, is an enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that in humans is encoded by the ACAT1 (Acetyl-Coenzyme A acetyltransferase 1) gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

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Acetyl-Coenzyme A acetyltransferase 1 is an acetyl-CoA C-acetyltransferase

Acetyl-CoA C-acetyltransferase

In enzymology, an acetyl-CoA C-acetyltransferase is an enzyme that catalyzes the chemical reactionHence, this enzyme has one substrate, acetyl-CoA, and two products, CoA and acetoacetyl-CoA....

 enzyme.

Function

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA.

Clinical significance

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.