Aliases for CTC1 Gene
External Ids for CTC1 Gene
Previous HGNC Symbols for CTC1 Gene
Previous GeneCards Identifiers for CTC1 Gene
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]
GeneCards Summary for CTC1 Gene
CTC1 (CTS Telomere Maintenance Complex Component 1) is a Protein Coding gene. Diseases associated with CTC1 include cerebroretinal microangiopathy with calcifications and cysts and retinal telangiectasia. GO annotations related to this gene include single-stranded DNA binding.
UniProtKB/Swiss-Prot for CTC1 Gene
Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites.