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Article

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

American journal of human genetics - 1 Mar 2006

Sass Jorn Oliver, Mohr Verena, Olbrich Heike, Engelke Udo, Horvath Judit, Fliegauf Manfred, Loges Niki Tomas, Schweitzer-Krantz Susanne, Moebus Ralf, Weiler Polly, Kispert Andreas, Superti-Furga Andrea, Wevers Ron A, Omran Heymut

Abstract excerpt

N-terminal acetylation of proteins is a widespread and highly conserved process. Aminoacylase 1 (ACY1; EC 3.5.14) is the most abundant of the aminoacylases, a class of enzymes involved in hydrolysis of N-acetylated proteins. Here, we present four children with genetic deficiency of ACY1. They wer...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16465618
DOI: 10.1086/500563
PMCID: PMC1380284

Genes

ACY1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16465618-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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