Acetyl-Coa Acetyltransferase (ACAT1) ELISA Kit for Mouse

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

Chromosomal Location of Human Ortholog: 9 A5.3|9 29.12 cM

Cellular Component: extracellular exosome; mitochondrial inner membrane; mitochondrial matrix; mitochondrion

Molecular Function: acetyl-CoA C-acetyltransferase activity; carbon-carbon lyase activity; catalytic activity; coenzyme binding; enzyme binding; ligase activity, forming carbon-carbon bonds; metal ion binding; protein homodimerization activity; transferase activity; transferase activity, transferring acyl groups; transferase activity, transferring groups other than amino-acyl groups

Biological Process: acetyl-CoA biosynthetic process; acetyl-CoA catabolic process; coenzyme A biosynthetic process; coenzyme A metabolic process; fatty acid beta-oxidation; isoleucine catabolic process; ketone body catabolic process; metabolic process; protein homooligomerization