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SOX11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SOX11 gene

The SOX11 gene provides instructions for a transcription factor that coordinates gene expression during the development of the brain and nerve cells.

Normal Function

The SOX11 gene provides instructions for making a protein that plays a critical role in the development of the brain and nerve cells (neurons). This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and coordinates with other proteins to turn on particular genes.

Studies suggest that the SOX11 protein may also be able to regulate the activity of genes involved in brain and nerve cell development through a different process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.

The activity (expression) of the SOX11 gene is controlled by chromatin remodeling by special protein groups called SWI/SNF complexes.

Health Conditions Related to Genetic Changes

Coffin-Siris syndrome

At least 14 variants (also known as mutations) in the SOX11 gene have been found to cause Coffin-Siris syndrome. This condition is characterized by intellectual disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features that are described as coarse. Most SOX11 gene variants involved in Coffin-Siris syndrome alter the SOX11 protein or prevent its production. These changes reduce the ability of the SOX11 protein to regulate the activity of genes, including those important for development of the brain and nerve cells. Altered gene activity can disrupt development of the brain and other tissues and organs, which could explain the diverse signs and symptoms of Coffin-Siris syndrome.

Other Names for This Gene

  • SRY (sex determining region Y)-box 11
  • SRY-box 11
  • SRY-related HMG-box gene 11

Frequently Asked Questions

Diagnosis usually involves a combination of clinical evaluation of the characteristic features (intellectual disability, fifth digit abnormalities, coarse facial features) and genetic testing. Genetic testing, often through a blood sample, can identify specific variants in the SOX11 gene, confirming the diagnosis.
Management is typically multidisciplinary and focuses on addressing individual symptoms. This often includes early intervention therapies like physical therapy, occupational therapy, speech therapy, and special education services to support developmental milestones and intellectual disability. Regular medical check-ups are also crucial to monitor for any associated health issues.
Most cases of Coffin-Siris syndrome due to SOX11 variants are de novo, meaning the variant occurred spontaneously in the affected individual and was not inherited from a parent. However, genetic counseling is highly recommended for families to understand the specific inheritance pattern, assess recurrence risk, and discuss testing options for other family members or future pregnancies.
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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