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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneGARS
Other namesHMN5; CMT2D; DSMAV; GlyRS; SMAD1
Gene nameglycyl-tRNA synthetase
Gene inheritance categorySALS genes
CategoryALTERED DNA/RNA PROCESSING
Chromosome7p15
Genomic CoordinatesChr7:30634181-30673649 ( +)
BackgroundMutated in distal hereditary motor neuropathy type V. Role for tRNA-charging enzymes in peripheral axons.
ResultNot yet tested in SALS, but an interesting candidate
Total Mutations0
Total Affected0

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KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Antonellis2006Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axonsFull_Paper
Dubourg2006The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type VFull_Paper
 
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