Entrez gene ID | | 38 |
Official gene symbol | | ACAT1 |
Full name | | acetyl-CoA acetyltransferase 1 |
Aliases | | ,ACAT,MAT,T2,THIL, |
Gene summary | | 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] |
Location | | Chromosome: 11 Locus: 11q22.3-q23.1 |
Gene position | | 107992258 - 108018895 Map Viewer |
Gene orientation | | plus |
Gene size | | 26638 bp |
Gene sequence |
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OMIM ID | | 607809 |
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