Article
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Journal of cellular physiology - 1 Jun 2023
Zade Nikita Harish, Khattar Ekta
Abstract excerpt
The protection of telomere protein (POT1) is a telomere-binding protein and is an essential component of the six-membered shelterin complex, which is associated with the telomeres. POT1 directly binds to the 3' single-stranded telomeric overhang and prevents the activation of DNA damage response at telomeres thus preventing the telomere-telomere fusions and genomic instability. POT1 also plays a pivotal role in...
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