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ACAT1
acetyl-CoA acetyltransferase 1
The ACAT1 mRNA encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. The ACAT gene spans approximately 27 kb and contains 12 exons interrupted by 11 introns. Defects in this gene are associated with the alpha-methylacetoaceticaciduria disorder, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone.
| Gene Name: | acetyl-CoA acetyltransferase 1 |
| Synonyms: | ACAT1, ACAT, Acetoacetyl-CoA thiolase, Acetyl-CoA acetyltransferase 1, MAT, T2, THIL |
| Target Sequences: | NM_000019 NP_000010.1 P24752 |
Publications (2)
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