TCOF1
treacle ribosome biogenesis factor 1
Normal Function
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 unclear why the effects of a reduction in rRNA are limited to facial development.
More About This Health ConditionRelated Conditions
Treacher Collins syndromeColoboma
Health Conditions Related to Genetic Changes
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 unclear why the effects of a reduction in rRNA are limited to facial development.
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