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SLITRK1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLITRK1 gene

The SLITRK1 gene provides instructions for a protein involved in the growth and development of nerve cells in the brain.

Normal Function

The SLITRK1 gene provides instructions for making a protein that belongs to the SLITRK family. These proteins are found in the brain and play a role in the growth and development of nerve cells. Specifically, the SLITRK1 protein may help guide the growth of axons and dendrites, which are specialized extensions that allow nerve cells to communicate with one another.

Health Conditions Related to Genetic Changes

Tourette syndrome

Mutations involving the SLITRK1 gene have been identified in a small number of people with Tourette syndrome. These mutations include:

  • del1264C: A deletion of a single DNA building block that leads to the production of an abnormally short, nonfunctional version of the SLITRK1 protein.
  • Promoter region mutations: A change in a single base pair near the gene that likely interferes with the production of the SLITRK1 protein.

Although the SLITRK1 gene is active in areas of the brain associated with Tourette syndrome, it is currently unclear how these mutations lead to the behavioral features of the condition. Because these mutations have been reported in so few individuals, the association between the SLITRK1 gene and Tourette syndrome has not been confirmed.

Frequently Asked Questions

Tourette syndrome is considered a complex neurodevelopmental disorder, meaning it likely results from a combination of genetic and environmental factors. While specific genes are being investigated, no single gene is responsible for the majority of cases. It's thought that many genes, each with a small effect, contribute to the risk, along with environmental influences that are still being researched.
Given that SLITRK1 mutations have been identified in only a small number of people with Tourette syndrome and the association is not yet confirmed, routine genetic testing specifically for SLITRK1 mutations is not typically recommended for most individuals with Tourette syndrome. Genetic testing for Tourette syndrome is complex and usually involves a broader panel of genes or is considered in specific research settings.
It means that while some individuals with Tourette syndrome have been found to have mutations in the SLITRK1 gene, the scientific evidence is not yet strong enough to definitively say that these mutations directly cause Tourette syndrome. This is often because the mutations have been reported in very few people, making it difficult to establish a clear cause-and-effect relationship or rule out other contributing factors. More research is needed to understand its role.
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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