Entrez gene ID | | 25913 |
Official gene symbol | | POT1 |
Full name | | protection of telomeres 1 homolog (S. pombe) |
Aliases | | ,DKFZp586D211,HPOT1, |
Gene summary | | 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 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. [provided by RefSeq] |
Location | | Chromosome: 7 Locus: 7q31.33 |
Gene position | | 124570037 - 124462440 Map Viewer |
Gene orientation | | minus |
Gene size | | 107598 bp |
Gene sequence |
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OMIM ID | | 606478 |
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