YLR318W

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Systematic name YLR318W
Gene name EST2
Aliases TERT
Feature type ORF, Verified
Coordinates Chr XII:766542..769196
Primary SGDID S000004310


Description of YLR318W: Reverse transcriptase subunit of the telomerase holoenzyme, essential for telomerase core catalytic activity, involved in other aspects of telomerase assembly and function; mutations in human homolog are associated with aplastic anemia[1][2][3]




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References

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  1. Jump up Lingner J, et al. (1997) Three Ever Shorter Telomere (EST) genes are dispensable for in vitro yeast telomerase activity. Proc Natl Acad Sci U S A 94(21):11190-5 SGD PMID 9326584
  2. Jump up Livengood AJ, et al. (2002) Essential regions of Saccharomyces cerevisiae telomerase RNA: separate elements for Est1p and Est2p interaction. Mol Cell Biol 22(7):2366-74 SGD PMID 11884619
  3. Jump up Yamaguchi H, et al. (2005) Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 352(14):1413-24 SGD PMID 15814878

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