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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ACAT1-20-RE | 20 (40 μL) | 200 μL |  |
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| ACAT1-20-OR | 20 (40 μL) | 200 μL |  |
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| ACAT1-20-GO | 20 (40 μL) | 200 μL |  |
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| ACAT1-20-GR | 20 (40 μL) | 200 μL |  |
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| ACAT1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : ACAT1
Gene Name : Acetyl-CoA acetyltransferase 1
Chromosome : CHR 11: 108,121,530-108,148,167
Locus : 11q22.3
Alt. Genes : ZNF263
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