Description
Product Characteristics:
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].
Subcellular location: Cytoplasm
Synonyms: ACAT 1, ACAT, Acetoacetyl CoA thiolase, Acetyl CoA acetyltransferase, mitochondrial, Acetyl Coenzyme A acetyltransferase 1, MAT, RATACAL, T2, THIL, THIL_HUMAN, Acetyl-CoA acetyltransferase, mitochondrial, Acetoacetyl-CoA thiolase, T2.
Target Information: 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]