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 |
|---|---|---|---|
| RS762991875 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS764568533 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS879255505 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |
| RS886041122 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder, Deficiency of acetyl-CoA acetyltransferase |
| RS980651269 | Health Risk | Pathogenic/Likely pathogenic | Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase |