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CTC1

Official Full Name
CST telomere replication complex component 1
Organism
Homo sapiens
GeneID
80169
Background
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]
Synonyms
CRMCC; AAF132; AAF-132; C17orf68; tmp494178;

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