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Article

Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.

Human mutation - 1 Oct 2018

Zadjali Fahad, Al-Yahyaee Aida, Al-Nabhani Maryam, Al-Mubaihsi Saif, Gujjar Arunodaya, Raniga Sameer, Al-Maawali Almundher

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) canonical function is to conjugate specific amino acids to cognate tRNA that are required for the first step of protein synthesis. Genetic mutations that cause dysfunction or absence of ARSs result in various neurodevelopmental disorders. The human phenylalanine-tRNA synthetase (PheRS) is a tetrameric protein made of two subunits coded by FARSA gene and two subunits coded by...

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Source

Identifiers

PMID: 30014610
DOI: 10.1002/humu.23595

Genes

FARSB
FARSA

Variants

Provenance

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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