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GARS1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GARS1 gene

The GARS1 gene provides instructions for making an enzyme essential for protein production, and variants in this gene are linked to specific neurological disorders.

Normal Function

The GARS1 gene provides instructions for making an enzyme called glycine—tRNA ligase. This enzyme is found in all cell types and plays an important role in the production of proteins. During protein production, protein building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycine—tRNA ligase helps add the amino acid glycine at the proper place in a protein's chain of amino acids.

Health Conditions Related to Genetic Changes

Distal hereditary motor neuropathy, type V

Several GARS1 gene variants (also called mutations) have been found to cause distal hereditary motor neuropathy, type V. This condition affects nerve cells (neurons) in the spinal cord. Specifically, it affects motor neurons, which are specialized cells that control muscle movement. Affected individuals develop muscle weakness that impairs the movement of the hands and feet. The GARS1 gene variants that cause distal hereditary motor neuropathy, type V lead to changes in single amino acids used to make glycine—tRNA ligase. While these variants reduce the activity of glycine—tRNA ligase, it is unclear how this change causes the disorder. A reduction in glycine—tRNA ligase activity may impair the transmission of nerve impulses and lead to a loss of communication between motor neurons and muscles in the hands and feet.

Charcot-Marie-Tooth disease

MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease.

Other disorders

GARS1 gene variants have been found to cause a condition called GARS1 infantile-onset spinal muscular atrophy (also known as infantile spinal muscular atrophy, James type). Affected individuals often show weak muscle tone (hypotonia) in early infancy. Muscle weakness, primarily in the lower arms and legs, impairs children’s ability to walk and grasp objects with their hands. Over time, worsening muscle weakness can cause problems with eating, speaking, and breathing in people with GARS1 infantile-onset spinal muscular atrophy.

Similar to distal hereditary motor neuropathy, type V, the variants that cause GARS1 infantile-onset spinal muscular atrophy change single amino acids in glycine—tRNA ligase. It is unclear how these changes cause the condition, though a reduction in glycine—tRNA ligase activity in people with GARS1 infantile-onset spinal muscular atrophy may impair motor neuron function in a similar way to people with distal hereditary motor neuropathy, type V. This may cause the severe muscle weakness seen in people with GARS1 infantile-onset spinal muscular atrophy.

Other Names for This Gene

  • CMT2D
  • DSMAV
  • GARS
  • glycine tRNA ligase
  • GlyRS
  • SMAD1
  • SYG_HUMAN

Frequently Asked Questions

While there is currently no cure to reverse the genetic defect, early and consistent physical therapy is critical to maintain muscle strength and joint flexibility. Occupational therapy can help develop adaptive strategies for daily tasks, such as using assistive devices for hand movements. Regular, low-impact exercise helps preserve remaining muscle function and prevent contractures, but it does not stop the underlying neurological progression.
Early signs often include subtle clumsiness or weakness in the hands, such as difficulty buttoning shirts, writing, or holding utensils. In the feet, individuals may notice tripping more frequently or developing a high-stepping gait due to foot drop. These symptoms typically begin in the distal extremities (hands and feet) and may progress slowly over time, affecting muscle strength and coordination in the arms and legs as the condition advances.
Yes, genetic testing for GARS1 variants is available and typically involves a blood or saliva sample for DNA analysis. Clinicians usually order a targeted gene panel or whole exome sequencing that includes the GARS1 gene. This test looks for specific known mutations associated with distal hereditary motor neuropathy type V or infantile-onset spinal muscular atrophy. A positive result confirms the diagnosis and can help guide genetic counseling for family members.
This condition is inherited in an autosomal dominant pattern, meaning only one copy of the altered GARS1 gene in each cell is sufficient to cause the disorder. If a parent has the condition, there is a 50 percent chance with each pregnancy of passing the gene variant to their child. Because it is autosomal dominant, the condition can appear in every generation of a family, although the severity of symptoms can vary significantly even among family members carrying the same mutation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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