Glycyl tRNA Synthetase (GARS)

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

SPN	T787
HGNC	4162
MGI	2449057
PubMed	19412816
RGD	1307856
UniProt	P41250
Wiki	GARS

Glycyl-tRNA synthetase isone 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)

Reference

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