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 |
|---|---|---|---|
| RS1591367592 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591368794 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591370366 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374552 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374629 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591374632 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591375882 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2077446835 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134773243 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134780623 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2134797745 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135334384 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135334430 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2135334862 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496516251 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496581613 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496584464 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496591603 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496591844 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496621154 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496621306 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496621683 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496622595 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496630751 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496631494 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496647256 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS2496659335 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS377295639 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS387906282 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS748425041 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS750195919 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS765961551 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS773491386 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS779758622 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS779908220 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS963023006 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS983216159 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1131691567 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074142 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074144 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074148 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1233969418 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1268424543 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1280110907 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1305448140 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS145229472 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Sarcoma, Deficiency of acetyl-CoA acetyltransferase |
| RS1469248513 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1476273214 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1565297723 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1565298653 | Health Risk | Pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |