Deficiency of acetyl-CoA acetyltransferase: genes and variants

Genes linked to Deficiency of acetyl-CoA acetyltransferase

• ACAT1: Acetyl-CoA acetyltransferase, mitochondrial

  It catalyzes the reversible conversion of two acetyl-CoA molecules to acetoacetyl-CoA in mitochondrial ketone-body and isoleucine metabolism. Biallelic deficiency causes beta-ketothiolase deficiency, which predisposes to recurrent episodes of severe ketoacidosis.

  55 disease-causing and 94 uncertain variants in ACAT1 are linked to Deficiency of acetyl-CoA acetyltransferase.

Known disease-causing variants in Deficiency of acetyl-CoA acetyltransferase

Frequently asked questions

Which genes are linked to Deficiency of acetyl-CoA acetyltransferase?

In CATVariant, Deficiency of acetyl-CoA acetyltransferase is linked to 1 analyzed protein: ACAT1 (Acetyl-CoA acetyltransferase, mitochondrial).

How many genetic variants are linked to Deficiency of acetyl-CoA acetyltransferase?

151 variants: 55 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 94 are of uncertain significance or have conflicting reports.

Which uncertain variants in Deficiency of acetyl-CoA acetyltransferase look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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