ACAT1 Chromosome 11
Acetyl-CoA acetyltransferase 1
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What This Gene Does
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]
Associated Conditions (6)
Deficiency of acetyl-CoA acetyltransferase
Inborn genetic diseases
Lung cancer
Malignant tumor of esophagus
ACAT1-related disorder
Sarcoma
Key Variants
RS12801620
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS1282394804
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS143892373
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS1439617035
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS149171104
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS150038447
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Lung cancer
Health Risk
RS1591361995
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS1591362472
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS1591371045
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS200498630
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS202030208
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
RS370063325
Conflicting classifications of pathogenicity
Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
Health Risk
All Variants (205)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS387906283 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS532190594 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS746332363 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS749376259 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS752216720 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS761282960 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS774418317 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS779565865 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS780486838 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS781496140 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS797044633 | Health Risk | Pathogenic | — |
| RS869312946 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1163072872 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074141 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074146 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074147 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1201662412 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1278227329 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1318268067 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1338023969 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1367121673 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1415293773 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1423476705 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1444451434 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1476922493 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS148639841 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder, Deficiency of acetyl-CoA acetyltransferase |
| RS1565281236 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1565293957 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591360348 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591361919 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363760 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363800 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591371185 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS199524907 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Deficiency of acetyl-CoA acetyltransferase |
| RS2134768525 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134791667 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135341631 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135356039 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496591869 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496622561 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496667151 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS373771053 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder, Deficiency of acetyl-CoA acetyltransferase |
| RS398123096 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS398123097 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS541517496 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS727503795 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS727503796 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS748303093 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS749873354 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS761038005 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |