ACAT1 cDNA Clone – Acetyl-Coenzyme A Acetyltransferase 1 (Human)

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]

ACAT1: Plays a major role in ketone body metabolism. Defects in ACAT1 are a cause of 3-ketothiolase deficiency (3KTD); also known as alpha- methylacetoaceticaciduria. 3KTD is an inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3- hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. Belongs to the thiolase family.

Protein type: Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Carbohydrate Metabolism - pyruvate; Amino Acid Metabolism - lysine degradation; Lipid Metabolism - synthesis and degradation of ketone bodies; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Lipid Metabolism - fatty acid; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - tryptophan; EC 2.3.1.9; Carbohydrate Metabolism - butanoate; Acetyltransferase; Mitochondrial

Chromosomal Location of Human Ortholog: 11q22.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: acetyl-CoA C-acetyltransferase activity

Biological Process: branched chain family amino acid catabolic process; ketone body biosynthetic process; ketone body catabolic process

Disease: Alpha-methylacetoacetic Aciduria