NP_000010.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
17,175 Da
NCBI Official Full Name
acetyl-CoA acetyltransferase, mitochondrial
NCBI Official Synonym Full Names
acetyl-CoA acetyltransferase 1
NCBI Protein Information
acetyl-CoA acetyltransferase, mitochondrial
UniProt Protein Name
Acetyl-CoA acetyltransferase, mitochondrial
UniProt Synonym Protein Names
Acetoacetyl-CoA thiolase; T2
UniProt Synonym Gene Names
UniProt Entry Name
THIL_HUMAN
NCBI Summary for ACAT1
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 Comments for ACAT1
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: Lipid Metabolism - synthesis and degradation of ketone bodies; Amino Acid Metabolism - tryptophan; Carbohydrate Metabolism - propanoate; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis; Mitochondrial; Carbohydrate Metabolism - butanoate; Carbohydrate Metabolism - pyruvate; EC 2.3.1.9; Acetyltransferase; Lipid Metabolism - fatty acid; Amino Acid Metabolism - lysine degradation; Amino Acid Metabolism - valine, leucine and isoleucine degradation
Chromosomal Location of Human Ortholog: 11q22.3
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion
Molecular Function: acetyl-CoA C-acetyltransferase activity; coenzyme binding; enzyme binding; metal ion binding; protein homodimerization activity
Biological Process: brain development; branched chain family amino acid catabolic process; ketone body biosynthetic process; ketone body catabolic process; liver development; protein homooligomerization; response to hormone stimulus; response to organic cyclic substance; response to starvation
Disease: Alpha-methylacetoacetic Aciduria
Research Articles on ACAT1
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Pathways associated with ACAT1 blocking peptide
Diseases associated with ACAT1 blocking peptide
Organs/Tissues associated with ACAT1 blocking peptide
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