The GARS1 gene provides instructions for making an enzyme called glycyl-tRNA synthetase. This enzyme is found in all cell types and plays an important role in the production (synthesis) of proteins. During protein synthesis, building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycyl-tRNA synthetase plays a role in adding the amino acid glycine at the proper place in a protein's chain of amino acids.
Genetics Home Reference 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 glycyl-tRNA synthetase. It is unclear how GARS1 gene mutations lead to this disorder. The mutations probably reduce the activity of glycyl-tRNA synthetase. A reduction in glycyl-tRNA synthetase activity may impair transmission of nerve impulses.
- glycine tRNA ligase