Gene Symbol | POT1 |
Entrez Gene ID | 25913 |
Full Name | protection of telomeres 1 |
Synonyms | CMM10,GLM9,HPOT1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3); {Glioma susceptibility 9}, 616568 (3) |