Protein Name acetyl-CoA acetyltransferase 1
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
  • acetyl-CoA acetyltransferase, mitochondrial
  • acetoacetyl Coenzyme A thiolase
  • acetoacetyl-CoA thiolase
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Properties