IFT80

The IFT80 gene is part of a family called intraflagellar transport homologs. Genes in this family provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia also play an important role in the perception of sensory input (such as sight, hearing, and smell).

The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport. This process is essential for the assembly and maintenance of these cell structures. The IFT80 protein is part of a larger group of related proteins (a protein complex) called IFT complex B. During intraflagellar transport, this complex helps carry materials from the base to the tip of cilia.

asphyxiating thoracic dystrophy - caused by mutations in the IFT80 gene

At least three mutations in the IFT80 gene have been identified in families with asphyxiating thoracic dystrophy. Two of these mutations change single protein building blocks (amino acids) in the IFT80 protein, and the third mutation deletes one amino acid from the protein. Researchers believe that each of these mutations disrupts the normal function of the IFT80 protein and impairs its ability to participate in intraflagellar transport. It is unclear, however, how mutations in the IFT80 gene lead to skeletal abnormalities, kidney problems, and the other features of asphyxiating thoracic dystrophy.