GARS

The GARS 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.

Charcot-Marie-Tooth disease - caused by mutations in the GARS gene

Researchers have identified a few mutations in the GARS gene that cause a form of Charcot-Marie-Tooth disease known as type 2D. These mutations replace one of the amino acids used to make glycyl-tRNA synthetase with an incorrect amino acid. It is unclear how GARS mutations lead to type 2D Charcot-Marie-Tooth disease. The mutations probably reduce the activity of glycyl-tRNA synthetase. Scientists suggest that nerve cells may be especially sensitive to a decrease in the activity of this enzyme. In particular, a change in glycyl-tRNA synthetase activity may impair the specialized outgrowths from nerve cells (axons) that transmit impulses to muscles and other nerve cells.

distal hereditary motor neuropathy, type V - caused by mutations in the GARS gene

Several GARS mutations have been identified in individuals with distal hereditary motor neuropathy, type V. These mutations replace one of the amino acids used to make glycyl-tRNA synthetase with an incorrect amino acid. It remains unclear how GARS mutations lead to this disorder. The mutations probably reduce the activity of glycyl-tRNA synthetase. Scientists suggest that nerve cells may be especially sensitive to a decrease in the activity of this enzyme. In particular, a change in glycyl-tRNA synthetase activity may impair the specialized outgrowths from nerve cells (axons) that transmit impulses to muscles and other nerve cells.