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 |
|---|---|---|---|
| RS1591360326 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591361903 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362402 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362483 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362533 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363674 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363795 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363834 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367375 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367422 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591367485 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591368919 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591370141 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591370221 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374544 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591375843 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2077368830 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2077411287 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2077527784 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2077590197 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2077737059 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134761257 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134768688 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134768866 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134772571 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134791556 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134791703 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134791752 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135334849 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135336077 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135336400 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135341565 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135355722 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496570243 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496581445 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496581880 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496582044 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496584780 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496585397 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496592074 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496592286 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496613617 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496620348 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496621601 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496621741 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496622641 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496631337 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496636048 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496636315 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496646864 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |