TCOF1 : treacle ribosome biogenesis factor 1


Description

The TCOF1 (treacle ribosome biogenesis factor 1) is a protein-coding gene located on chromosome 5.

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 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.

Treacle protein acts as a regulator of RNA polymerase I by connecting it with enzymes responsible for ribosomal processing and modification. This process is essential for neural crest specification, as it remodels the translational program of differentiating cells to favor neural crest development. Following monoubiquitination by the BCR(KBTBD8) complex, Treacle associates with NOLC1, forming a platform that connects RNA polymerase I with ribosomal processing and modification enzymes.

TCOF1 is also known as MFD1, TCS, TCS1, treacle.

Associated Diseases


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