IFT20
Introduction to IFT20
IFT20, also known as the intraflagellar transport 20 protein, is a crucial component of the intraflagellar transport (IFT) complex, responsible for the assembly and maintenance of cilia and flagella. These hair-like structures extend from the cell surface and play vital roles in various cellular functions.
Description of IFT20
IFT20 is a member of the IFT-B complex, a multi-protein structure that helps transport cargo molecules from the cell body to the tip of the cilium or flagellum. The IFT-B complex binds to specific cargoes and travels along microtubules within the cilium or flagellum.
IFT20, along with other IFT-B proteins, contributes to the structural integrity of the IFT complex and ensures its proper assembly and function. It interacts with other proteins, including IFT172 and IFT46, to regulate the transport of specific cargo molecules.
Associated Diseases
Mutations or dysregulation of IFT20 can lead to several genetic disorders that affect the development and function of cilia and flagella. These disorders are collectively known as ciliopathies and include:
- Bardet-Biedl syndrome (BBS): A rare genetic disorder characterized by obesity, polydactyly, intellectual disability, retinitis pigmentosa, and kidney problems. BBS is caused by mutations in various genes encoding IFT proteins, including IFT20.
- Nephronophthisis (NPHP): A group of inherited kidney diseases characterized by the progressive loss of nephrons, the functional units of the kidneys. Mutations in IFT20 and other IFT genes can cause NPHP.
- Lesch-Nyhan syndrome (LNS): A rare X-linked genetic disorder characterized by self-injurious behavior, intellectual disability, and gout. LNS is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which is essential for purine metabolism. IFT20 and other IFT proteins have been implicated in the transport of HGPRT into the nucleus.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by ciliopathies caused by IFT20 mutations. However, the exact prevalence of IFT20-related disorders may vary depending on the population studied.
