glycyl-tRNA synthetase (glycine-tRNA ligase, glyRS, GARS)

Function

-..........-

ATP + glycine + tRNA(gly)
          <-->
AMP + diphosphate + glycyl-tRNA(gly)

Structure

• homodimer
• belongs to the aminoacyl-tRNA synthetase-2 family
• contains 1 WHEP-TRS domain

Expression

widely expressed, including brain & spinal cord

Pathology

• defects in GARS are the cause of
  • Charcot-Marie-Tooth disease type-2D
  • distal spinal muscular atrophy type 5

More general terms

• amino acyl tRNA synthetase-2

Additional terms

• phosphoribosylglycinamide formyltransferase (phosphoribosylformylglycinamidine cyclo-ligase, trifunctional purine biosynthetic protein adenosine-3, phosphoribosylglycinamide synthetase, GART)

Database

• UniProt: http://www.uniprot.org/uniprot/P41250.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2617
• OMIM: https://mirror.omim.org/entry/600287
• OMIM: https://mirror.omim.org/entry/600794
• OMIM: https://mirror.omim.org/entry/601472