ACAT1
gene productACAT, THIL
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]
Featured antibodies
Thermo Fisher Scientific Pierce |
PA5-14498 | 0 references | Polyclonal |
WB ![]() IH ![]() |
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