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TCOF1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TCOF1 gene

The TCOF1 gene provides instructions for the protein treacle, which is vital for early embryonic development of facial structures.

Normal Function

The TCOF1 gene provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues of the face, and it appears to play a critical role in the formation of these structures.

Studies suggest that treacle is involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced.

Health Conditions Related to Genetic Changes

Treacher Collins syndrome

About 200 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face. Most of these mutations insert or delete a small number of DNA building blocks (base pairs) in the TCOF1 gene, which leads to a reduction in the amount of functional treacle in cells.

As a result, the production of rRNA is reduced, which likely triggers the self-destruction (apoptosis) of certain cells involved in the early development of facial bones and tissues. Researchers believe that this abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is currently unclear why the effects of a reduction in rRNA are limited to facial development.

Other Names for This Gene

  • TCOF_HUMAN
  • TCS
  • Treacher Collins syndrome protein
  • Treacher Collins-Franceschetti syndrome 1
  • treacle

Frequently Asked Questions

Individuals with Treacher Collins syndrome often have characteristic facial features, including underdeveloped cheekbones, a small jaw, downward-sloping eyes, and sometimes a cleft palate. Ear abnormalities, ranging from small or unusually shaped ears to absent ears, are also common and can lead to hearing loss. Breathing and feeding difficulties may occur in infancy due to the facial structure differences.
Treacher Collins syndrome caused by TCOF1 mutations is usually inherited in an autosomal dominant pattern. This means only one copy of the altered TCOF1 gene in each cell is sufficient to cause the condition. In about 60% of cases, the mutation occurs spontaneously in the affected individual with no family history. In other cases, an affected parent can pass the mutation to their child, with each child having a 50% chance of inheriting the condition.
Diagnosis often begins with a clinical evaluation of the characteristic facial features. Genetic testing for mutations in the TCOF1 gene can confirm the diagnosis. This typically involves a blood test to analyze the DNA. Prenatal diagnosis is also possible through amniocentesis or chorionic villus sampling if a TCOF1 mutation has been identified in the family.
Management is multidisciplinary and focuses on addressing specific symptoms. This can include surgical interventions to reconstruct facial bones and improve breathing, hearing aids or bone-anchored hearing systems for hearing loss, and speech therapy. Early intervention is crucial to support development and improve quality of life. Regular follow-ups with specialists like craniofacial surgeons, audiologists, and speech therapists are essential.
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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