POT1

Protection of telomeres protein 1 is a is_associated_with::protein that in humans is encoded by the POT1 is_associated_with::gene.

Function
This gene is a member of the telombin family and encodes a nuclear protein involved in is_associated_with::telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex known as is_associated_with::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 is_associated_with::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 is_associated_with::chronic lymphocytic leukemia.
 * POT1 loss-of-function variants predispose to familial is_associated_with::melanoma and is_associated_with::glioma.