POT1

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex known as shelterin, that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Alternatively spliced transcript variants have been described. == Interactions ==

POT1 has been shown to interact with ACD and TINF2. == Pathology ==

• Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. • Mutations in this gene have also been associated to the acquisition of the malignant features of chronic lymphocytic leukemia. • POT1 loss-of-function variants predispose to familial melanoma and glioma. == References ==