ACAA2

Chr 18

acetyl-CoA acyltransferase 2

Also known as: DSAEC, T1

NCBI Gene: 10449 ENSG00000167315 UniProt: P42765

The encoded protein catalyzes the final step of mitochondrial fatty acid beta-oxidation, breaking down medium- to long-chain fatty acids into acetyl-CoA for energy production. Mutations cause autosomal recessive 3-methylglutaconicaciduria with early-onset neurodegeneration, developmental delay, and metabolic dysfunction affecting the central nervous system and energy metabolism. This gene is highly intolerant to loss-of-function variants, indicating its critical role in cellular energy production.

ResearchSummary from RefSeq, UniProt

The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.31

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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