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Article

Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.

Human mutation - 1 Jun 2018

Antonellis Anthony, Oprescu Stephanie N, Griffin Laurie B, Heider Amer, Amalfitano Andrea, Innis Jeffrey W

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in phenotypically diverse dominant and recessive human diseases. The charging of tRNAPHE with phenylalanine is performed by a tetrameric enzyme that contains two alpha (FARSA) and two beta (FARSB) subunits. To date, mutations in the genes encoding these...

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Source

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Identifiers

PMID: 29573043
DOI: 10.1002/humu.23424
PMCID: PMC5992071

Genes

FARSB
FARSA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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