Protection Of Telomeres 1 Homolog (POT1)

POT1 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 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. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described.Human POT1 encodes a 71-kD protein whose N-terminal region shares 26% identity with the N terminus of S. pombe Pot1. POT1 is a housekeeping gene required to ensure the integrity of chromosome ends in all cells.