Gene Symbol | ACAT1 |
Entrez Gene ID | 38 |
Full Name | acetyl-CoA acetyltransferase 1 |
Synonyms | ACAT,MAT,T2,THIL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Feb 2009]. |
Disorder MIM: | |
Disorder Html: | Alpha-methylacetoacetic aciduria, 203750 (3) |