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 |
|---|---|---|---|
| RS12801620 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1282394804 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS143892373 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1439617035 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS149171104 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Deficiency of acetyl-CoA acetyltransferase |
| RS150038447 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Lung cancer |
| RS1591361995 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591362472 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591371045 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS200498630 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS202030208 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS370063325 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS370720208 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder, Deficiency of acetyl-CoA acetyltransferase |
| RS372169445 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS3741050 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS376661693 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS536301499 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS577313004 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Deficiency of acetyl-CoA acetyltransferase |
| RS747714452 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases, Deficiency of acetyl-CoA acetyltransferase |
| RS753816946 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS754619277 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS755806238 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS760991373 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS763375578 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS767412638 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS77311724 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder, Deficiency of acetyl-CoA acetyltransferase |
| RS780994047 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS794727475 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS794727893 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS866364527 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS886042080 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS886047594 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1025180934 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1037467160 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS112950994 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1184088336 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074140 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074143 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS120074145 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1277676635 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1346954123 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1385465985 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1401882647 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1410743762 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1420321267 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1437567292 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1565288701 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1565297769 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363715 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS1591363786 | Health Risk | Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |