rs120074142

This is a variant in the ACAT1 gene that changes a methionine to an threonine.

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ClinVar annotation

Pathogenic★★★☆
2 submitters8 publications

Deficiency of acetyl-CoA acetyltransferase

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About 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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