IFT140

Ideogram human chromosome 16

IFT140

IFT140 is a gene that encodes a protein involved in intraflagellar transport, a process essential for the assembly and maintenance of cilia. Cilia are hair-like structures found on the surface of many cells and play crucial roles in various cellular functions, including cell signaling and movement.

Function

The protein encoded by IFT140 is a component of the intraflagellar transport complex B (IFT-B), which is responsible for transporting cargo proteins along the ciliary axoneme. This transport process is crucial for the proper formation and function of cilia.

Clinical Significance

Mutations in the IFT140 gene have been associated with various ciliopathies, a group of genetic disorders characterized by defects in cilia structure and function. These disorders can affect multiple organ systems and lead to a range of symptoms, including vision and hearing impairment, kidney abnormalities, and skeletal defects.

Research

Research on IFT140 and other genes involved in cilia formation and function is ongoing, with the goal of better understanding the molecular mechanisms underlying ciliopathies and developing potential therapeutic strategies.

See also

• Ciliopathy
• Intraflagellar transport
• Cilium

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