Glycyl tRNA Synthetase (GARS)

Glycyl-tRNA synthetase is one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis.Defects in GARS are the cause of distal spinal muscular atrophy type V (DSMA-V). DSMA-V is an autosomal dominant distal hereditary motor neuropathy (dHMN) with a phenotype similar to CMTD2. The main characteristic that distinguishes these disorders is the less severe distal sensory involvement in DSMA-V patients.Defects in GARS are the cause of Charcot-Marie-Tooth disease type 2D (CMT2D)