A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.

doi:10.1038/s41431-018-0136-0

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Article

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy.

European journal of human genetics : EJHG - 1 Sept 2018

Støve Svein Isungset, Blenski Marina, Stray-Pedersen Asbjørg, Wierenga Klaas J, Jhangiani Shalini N, Akdemir Zeynep Coban, Crawford David, McTiernan Nina, Myklebust Line M, Purcarin Gabriela, McNall-Knapp Rene, Wadley Alexandrea, Belmont John W, Kim Jeffrey J, Lupski James R, Arnesen Thomas

Abstract excerpt

The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that catalyzes N-terminal acetylation of ~40% of all human proteins. N-terminal acetylation has several different roles in the cell, including altering protein stability and degradation, protein localization and protein-protein interactions. In recent years several X-linked NAA10 variants have been associated with genetic disorders. We have...

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Identifiers

PMID: 29748569
DOI: 10.1038/s41431-018-0136-0
PMCID: PMC6117304

Genes

NAA10
NAA15

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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