GARS1

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease

Several GARS1 gene mutations have been identified in individuals with distal hereditary motor neuropathy, type V. This disorder affects nerve cells in the spinal cord, resulting in muscle weakness and affecting movement of the hands and feet. The GARS1 gene mutations that cause distal hereditary motor neuropathy, type V change single amino acids used to make glycine--tRNA ligase. It is unclear how GARS1 gene mutations lead to this disorder. The mutations probably reduce the activity of glycine--tRNA ligase. A reduction in glycine--tRNA ligase activity may impair transmission of nerve impulses.