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This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000723 [telomere maintenance] GO:0000784 [nuclear chromosome, telomeric region] GO:0003697 [single-stranded DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006974 [cellular response to DNA damage stimulus] GO:0007568 [aging] GO:0010389 [regulation of G2/M transition of mitotic cell cycle] GO:0010521 [telomerase inhibitor activity] GO:0010833 [telomere maintenance via telomere lengthening] GO:0035264 [multicellular organism growth] GO:0042162 [telomeric DNA binding] GO:0045740 [positive regulation of DNA replication] GO:0048146 [positive regulation of fibroblast proliferation] GO:0048536 [spleen development] GO:0048538 [thymus development] GO:0048539 [bone marrow development] GO:0051276 [chromosome organization] GO:0051974 [negative regulation of telomerase activity] GO:0070188 [Stn1-Ten1 complex] GO:0071425 [hematopoietic stem cell proliferation] GO:0090399 [replicative senescence] GO:0098505 [G-rich strand telomeric DNA binding] GO:1904356 [regulation of telomere maintenance via telomere lengthening]