Recombinant Human GARS is produced by E.coli expression system and the target gene is expressed with a 6His tag at the N-terminus and the C-terminus.

Glycyl tRNA Synthetase, CMT2D, CMT2-D, DSMAV, GlyRS, SMAD1, EJ, Charcot-Marie-Tooth Neuropathy 2D, Glycine tRNA Ligase, Diadenosine tetraphosphate synthetase, AP-4-A synthetase

80.2 kDa

80 kDa, reducing conditions

Supplied as a 0.2 μm filtered solution of 25mM Tris-HCl, 100mM Glycine, 200mM NaCl, 20% Glycerol, pH8.0.

The product is shipped on dry ice pack.Upon receipt, store it immediately at the temperature listed below.

Glycyl-tRNA synthetase has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis.The peripheral nerve diseases Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) have been liked to dominant mutations in GARS.CMT2D usually manifests during the teenage years, and results in muscle weakness predominantly in the hands and feet.Two mouse models of CMT2D have been used to better understand the disease, identifying that the disorder is caused by a toxic gain-of-function of the mutant glycine-tRNA ligase protein.The CMT2D mice display peripheral nerve axon degeneration and defective development and function of the neuromuscular junction.