ACAT1 Back

acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase)

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NCBI Description of 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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

ACAT1 is highly significantly mutated in
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ACAT1 is significantly mutated in
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ACAT1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for ACAT1