Treacher Collins-Franceschetti syndrome 1
, also known as TCOF1
, is a human gene
TCOF1 is a gene
that provides instructions for making a protein
called treacle. This protein is active during early embryonic development in structures that become bones
and other tissues in the face. Although the precise function of this protein is unknown, researchers believe that it plays a critical role in the development of facial bones and related structures.
Studies suggest that treacle is involved in the production of a molecule called ribosomal RNA (rRNA) within cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced. As a major component of cell structures called ribosomes, rRNA is essential for the assembly of proteins.
The TCOF1 gene is located on the long (q) arm of chromosome 5 between positions 32 and 33.1, from base pair 149,717,427 to base pair 149,760,047.
More than 120 mutations
in the TCOF gene have been identified in people with Treacher Collins syndrome
. Most of these mutations insert or delete a small number of DNA
building blocks (base pairs
) in the TCOF1 gene. TCOF1 mutations lead to the production of an abnormally small, nonfunctional version of treacle or prevent the cell from producing this protein. Researchers speculate that a loss of treacle reduces the production of rRNA in parts of the embryo
that develop into facial bones and tissues. It is not known how loss of this protein causes the specific problems with facial development found in Treacher Collins syndrome.