Recombinant Human Acetyl-CoA acetyltransferase, mitochondrial (ACAT1)

Uniprot Id

P24752

Target Species

Human

Target Name

ACAT1

Target Full Name

Acetyl-CoA acetyltransferase, mitochondrial

Target Function

This is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA. Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms. The activity of the enzyme is reversible and it can also catalyze the condensation of two acetyl-CoA molecules into acetoacetyl-CoA. Thereby, it plays a major role in ketone body metabolism.

Target Involvement

3-ketothiolase deficiency (3KTD)

Target Subcellular Location

Mitochondrion.

Target Protein Families

Thiolase family

Target Research Area

Metabolism

Target Synonyms

ACAT 1; ACAT; acat1; Acetoacetyl CoA thiolase; acetoacetyl Coenzyme A thiolase; Acetoacetyl-CoA thiolase; Acetyl CoA acetyltransferase; mitochondrial ; Acetyl Coenzyme A acetyltransferase 1; Acetyl-CoA acetyltransferase; acetyl-coa acetyltransferase precursor; mitochondrial ; Acetyl-CoA thiolase; mitochondrial; acetyl-Coenzyme A acetyltransferase 1; MAT; mitochondrial acetoacetyl-CoA thiolase; mitochondrial; RATACAL; T2; testicular tissue protein Li 198; THIL; THIL_HUMAN

Target 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.