ACAT1 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 11q22.3

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: protein homodimerization activity; enzyme binding; acetyl-CoA C-acetyltransferase activity; metal ion binding; coenzyme binding

Biological Process: response to starvation; ketone body catabolic process; response to hormone stimulus; ketone body biosynthetic process; branched chain family amino acid catabolic process; cellular lipid metabolic process; brain development; ketone body metabolic process; liver development; response to organic cyclic substance; protein homooligomerization

Disease: Alpha-methylacetoacetic Aciduria