IFT80

IFT80 is a protein that in humans is encoded by the IFT80 gene. It is a component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of cilia and flagella. Mutations in this gene are associated with Jeune asphyxiating thoracic dystrophy and short-rib polydactyly syndrome.

Function

IFT80 is a core component of the IFT complex B, which is involved in the anterograde transport of ciliary components from the base to the tip of the cilia. This transport is essential for the development and maintenance of cilia, which are small, hair-like structures present on the surface of all mammalian cells. Cilia play a crucial role in several cellular processes, including cell movement, signal transduction, and cell division.

Clinical significance

Mutations in the IFT80 gene have been associated with several ciliopathies, which are diseases caused by defects in cilia. These include Jeune asphyxiating thoracic dystrophy, a rare genetic disorder characterized by a small chest, short ribs, and bone abnormalities, and short-rib polydactyly syndrome, a condition characterized by short ribs, polydactyly (extra fingers or toes), and other skeletal abnormalities.

Research

Research on IFT80 has focused on understanding its role in cilia formation and function, as well as its involvement in ciliopathies. Studies have shown that mutations in the IFT80 gene can disrupt cilia formation and function, leading to the development of ciliopathies. Further research is needed to fully understand the mechanisms by which IFT80 mutations cause these diseases.

File:IFT80 protein structure.jpg

IFT80 protein structure. Image from Wikimedia Commons.

See also

• Intraflagellar transport
• Ciliopathy
• Jeune asphyxiating thoracic dystrophy
• Short-rib polydactyly syndrome

References

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