Genes

POT1

Protection of telomeres 1 (POT1) is a gene that encodes a nuclear protein that functions in telomere maintenance. The protein regulates telomere length and protects chromosome ends from erroneous recombination, chromosomal instability, and abnormal chromosome segregation. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as hematopoietic and lymphoid cancer, lung cancer, and parathyroid cancer.

Modified: July 1, 2015

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