Missense NAA20 variantsimpairing the NatB protein N-terminal acetyltransferase cause autosomal recessivedevelopmental delay, intellectual disability, and microcephaly

Abstract excerpt

PURPOSE: N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. In five individuals with overlapping phenotypes, we identified recessive homozygous missense variants in NAA20. METHODS: Two...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Histone Deacetylase Inhibitors Research
• Share to Neuropeptides and Animal Physiology
• Share to Peptidase Inhibition and Analysis