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Article

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

European journal of human genetics : EJHG - 1 Mar 2016

Iqbal Zafar, Püttmann Lucia, Musante Luciana, Razzaq Attia, Zahoor Muhammad Yasir, Hu Hao, Wienker Thomas F, Garshasbi Masoud, Fattahi Zohreh, Gilissen Christian, Vissers Lisenka E L M, de Brouwer Arjan P M, Veltman Joris A, Pfundt Rolph, Najmabadi Hossein, Ropers Hans-Hilger, Riazuddin Sheikh, Kahrizi Kimia, van Bokhoven Hans

Abstract excerpt

AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative...

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Identifiers

PMID: 26173967
DOI: 10.1038/ejhg.2015.148
PMCID: PMC4755381

Genes

AIMP1

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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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