ACAT1 (P24752) variants and mutations

ACAT1 (also known as P24752) is a human protein-coding gene encoding an acetyl-CoA acetyltransferase, mitochondrial protein. 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. This analysis covers 715 ACAT1 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes beta-ketothiolase deficiency, hereditary disease, and Abnormality of the skeletal system. Example ACAT1 variants include M1K, M1L, and M1T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ACAT1 variants

Examples include M1K, M1L, M1T, M1V, A2D, A2V, A2S, A2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.