Protein Name | acetyl-CoA acetyltransferase 1 |
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Organism | Homo sapiens |
Gene ID | 38 |
Gene Symbol | ACAT1 |
UniProt | P24752 (THIL_HUMAN), A0A5F9ZHJ0 (A0A5F9ZHJ0_HUMAN), A0A140VJX1 (A0A140VJX1_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
212
Total Number of Articles : 259 |
Description |
acetyl-CoA acetyltransferase 1 |
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, Feb 2009] |
synonyms |
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Properties | |