IFT27

IFT27 is a gene that in humans is encoded by the IFT27 protein. It is a component of the intraflagellar transport (IFT) complex B and is essential for the maintenance of cilia and flagella.

Function

The IFT27 gene is a small G protein, a member of the Ras superfamily. It is involved in ciliary biogenesis through intraflagellar transport, a process that is essential for the formation and maintenance of cilia and flagella. Mutations in this gene have been associated with Bardet-Biedl syndrome, a genetic disorder characterized by obesity, retinal degeneration, polydactyly, and renal abnormalities.

Clinical significance

Mutations in the IFT27 gene have been linked to Bardet-Biedl syndrome (BBS), a rare, multi-system genetic disorder. BBS is characterized by obesity, retinal degeneration, polydactyly, and renal abnormalities. The IFT27 gene mutation is one of the rarest causes of BBS, accounting for less than 1% of all cases.

Research

Research on the IFT27 gene is ongoing, with studies focusing on its role in ciliary biogenesis and its implications in diseases such as Bardet-Biedl syndrome. Understanding the function of IFT27 and its role in cilia and flagella could lead to new treatments for ciliopathies and other diseases related to cilia dysfunction.

File:IFT27 gene location on human chromosome.png

IFT27 gene location on human chromosome

See also

• Intraflagellar transport
• Bardet-Biedl syndrome
• Cilia
• Flagella

References

‎