POT1, Official Symbol POT1provided by HGNC Official Full Name protection of telomeres 1provided by HGNC Primary source HGNC:HGNC:17284 See related Ensembl:ENSG00000128513 MIM:606478; AllianceGenome:HGNC:17284 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GLM9; CMM10; HPOT1; CRMCC3; PFBMFT8 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] Expression Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.2) and 25 other tissues See more Orthologs mouse all