Gene Symbol | GARS1 |
Entrez Gene ID | 2617 |
Full Name | glycyl-tRNA synthetase |
Synonyms | CMT2D,DSMAV,GlyRS,HMN5,SMAD1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes glycyl-tRNA synthetase, 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 2D, 601472 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3) |