POT1

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

Function

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

References

Further reading