ACAT1

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For the human acetyl-coA cholesterol acyltransferase messenger RNA, see ACAT1 mRNA.
Acetyl-CoA acetyltransferase 1
PDB 2ib8 EBI.png
PDB rendering based on 2ib8.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ACAT1 ; ACAT; MAT; T2; THIL
External IDs OMIM607809 MGI87870 HomoloGene6 ChEMBL: 2616 GeneCards: ACAT1 Gene
EC number 2.3.1.9
Orthologs
Species Human Mouse
Entrez 38 110446
Ensembl ENSG00000075239 ENSMUSG00000032047
UniProt P24752 Q8QZT1
RefSeq (mRNA) NM_000019 NM_144784
RefSeq (protein) NP_000010 NP_659033
Location (UCSC) Chr 11:
107.99 – 108.02 Mb
Chr 9:
53.58 – 53.61 Mb
PubMed search [1] [2]

Acetyl-CoA acetyltransferase, mitochondrial also known as acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT1 (Acetyl-Coenzyme A acetyltransferase 1) gene.[1]

Acetyl-Coenzyme A acetyltransferase 1 is an acetyl-CoA C-acetyltransferase enzyme.

Function[edit]

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA.[1]

Clinical significance[edit]

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.[1]

References[edit]


Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.