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Article

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy.

European journal of human genetics : EJHG - 1 Feb 2021

McTiernan Nina, Gill Harinder, Prada Carlos E, Pachajoa Harry, Lores Juliana, Arnesen Thomas

Abstract excerpt

Nearly half of all human proteins are acetylated at their N-termini by the NatA N-terminal acetyltransferase complex. NAA10 is evolutionarily conserved as the catalytic subunit of NatA in complex with NAA15, but may also have NatA-independent functions. Several NAA10 variants are associated with genetic disorders. The phenotypic spectrum includes developmental delay, intellectual disability, and cardiac...

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Identifiers

PMID: 32973342
DOI: 10.1038/s41431-020-00728-2
PMCID: PMC7868364

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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