Article
Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.
American journal of medical genetics. Part A - 1 Jan 2021
Ritter Alyssa, Berger Justin H, Deardorff Matthew, Izumi Kosuke, Lin Kimberly Y, Medne Livija, Ahrens-Nicklas Rebecca C
Abstract excerpt
The NatA N-acetyltransferase complex is important for cotranslational protein modification and regulation of multiple cellular processes. The NatA complex includes the core components of NAA10, the catalytic subunit, and NAA15, the auxiliary component. Both NAA10 and NAA15 have been associated with neurodevelopmental disorders with overlapping clinical features, including variable intellectual disability,...
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