Abstract
Naa10 in development and disease.
Highlights
Identification of causative mutations for rare genetic diseases has for long been of interest to medical geneticists
Naa10 constitute the catalytic subunit of the NatA complex, the major N-terminal acetyltransferases (NATs) acetylating 40% of all cellular proteins [2]
The mutant NatA complex displayed both an impaired peptide substrate binding and NAT activity (Figure 1) and we observed a significantly reduced NatA complex formation
Summary
Identification of causative mutations for rare genetic diseases has for long been of interest to medical geneticists. These modifications increase the diversity of expressed proteins and are often crucial for their regulation and function. Protein Nα-terminal acetylation (Nt-acetylation) represents one such major modification affecting 80-90% of all soluble human proteins [2].
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