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Literature summary for 6.1.1.14 extracted from

  • Blumen, S.; Drory, V.; Sadeh, M.; El-Ad, B.; Soimu, U.; Groozman, G.; Bouchard, J.; Goldfarb, L.
    Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease (2010), Amyotroph. Lateral Scler., 11, 237-239.
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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 gene GARS
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Synonyms

Synonyms Comment Organism
Glycyl-tRNA synthetase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction GARS gene mutations are involved in autosomal dominant motor distal neuronopathy/axonopathy, CMT2D/dSMA-V, and sporadic juvenile muscular atrophy of the distal upper extremity or Hirayama's disease, phenotype and mechanism, overview Homo sapiens