Rabbit ACAT1 Polyclonal Antibody | anti-ACAT1 antibody
ACAT1 Antibody
Western Blot (WB)
(All lanes : Anti-ACAT1 Antibody at 1:1000 dilutionLane 1: HeLa whole cell lysatesLane 2: HepG2 whole cell lysatesLysates/proteins at 20 ug per lane.SecondaryGoat Anti-Rabbit IgG, (H+L),Peroxidase conjugated at 1/10000 dilutionPredicted band size : 45 kDaBlocking/Dilution buffer: 5% NFDM/TBST.)
Kano M.,et al.Gene 109:285-290(1991).
Ota T.,et al.Nat. Genet. 36:40-45(2004).
Mural R.J.,et al.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
Aboulaich N.,et al.Biochem. J. 383:237-248(2004).
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Amino Acid Metabolism - tryptophan; Lipid Metabolism - fatty acid; Carbohydrate Metabolism - pyruvate; Carbohydrate Metabolism - butanoate; Amino Acid Metabolism - lysine degradation; Acetyltransferase; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Mitochondrial; Lipid Metabolism - synthesis and degradation of ketone bodies; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 2.3.1.9
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; ketone body metabolic process; cellular lipid metabolic process; brain development; liver development; response to organic cyclic substance; protein homooligomerization
Disease: Alpha-methylacetoacetic Aciduria