Acetyl-CoA Acetyltransferase 1

Alternative Names

  • ACAT1
  • ACAT
  • Acetoacetyl-CoA Thiolase, Mitochondrial
  • T2
  • Mitochondrial Acetoacetyl-CoA Thiolase
  • MAT
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OMIM Number

607809

NCBI Gene ID

38

Uniprot ID

P24752

Length

26,653 bases

No. of Exons

17

No. of isoforms

2

Protein Name

Acetyl-CoA acetyltransferase, mitochondrial

Molecular Mass

45200 Da

Amino Acid Count

427

Genomic Location

chr11:108,121,516-108,148,168

Gene Map Locus
11q22.3

Description

The ACAT1 gene encodes a mitochondrial enzyme of 427 amino acids called acetyl-Coenzyme A acetyltransferase (ACAT1), also known as 2-methylacetoacetyl CoA thiolase or beta-ketothiolase. This enzyme is involved in both amino acid degradation and in fatty acid oxidation. It plays an important role in ketone body metabolism and catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000019.3:c.395C>GLebanonNC_000011.10:g.108135202C>GLikely PathogenicPathogenicAlpha-Methylacetoacetic AciduriaNG_009888.1:g.18672C>G; NM_000019.3:c.395C>G; NP_000010.1:p.Ala132Gly1591363786666480
NM_000019.4:c.854C>TUnited Arab EmiratesNC_000011.10:g.108142464C>TUncertain SignificanceLikely PathogenicAlpha-Methylacetoacetic AciduriaNG_009888.1:g.25934C>T; NM_000019.4:c.854C>T; NP_000010.1:p.Thr285Ile1239221388666509
NM_000019.4:c.86_87dupUnited Arab EmiratesNC_000011.10:g.108131920_108131921dupPathogenicLikely PathogenicAlpha-Methylacetoacetic AciduriaNG_009888.2:g.20216_20217dup; NM_000019.4:c.86_87dup; NP_000010.1:p.Glu30TrpfsTer111591360348666464

Other Reports

Lebanon

In a retrospective analysis of IEMs diagnosed over a 12-year period (1998-2010) in a hospital in Lebanon, Karam et al. (2013) found three patients diagnosed with Acetyl-CoA Thiolase Deficiency. The median age of diagnosis was 3-years. 

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