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Description
GARS, also known as glycyl-tRNA synthetase, is one of the aminoacyl-tRNA synthetase that charge tRNAs with their cognate amino acids. Defects in the gene encoding GlyRS is the cause of Charcot-Marie-Tooth disease type 2D (CMT2D), which is an autosomal dominant inherited disease characterized by severe weakness, atrophy and absence of deep tendon reflexes in the upper extremities. Defects in the GlyRS gene is also the cause of distal hereditary muscular neuropathy type V (HMN5), a disease similar to CMT2D, though the distal sensory involvement is less severe in HMN5 patients.
Immunogen
Recombinant human GARS (43-289aa) purified from E. coli