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]
Function:
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.
Subcellular Location:
Nucleus. Chromosome > telomere. A transmembrane region is predicted by sequence analysis tools (ESKW, MEMSAT and Phobius); however, given the telomeric localization of the protein, the relevance of the transmembrane region is unsure in vivo.
DISEASE:
Cerebroretinal microangiopathy with calcifications and cysts
Similarity:
Belongs to the CTC1 family.
SWISS:
Q2NKJ3
Gene ID:
80169
Database links:
Entrez Gene: 80169 Human
Omim: 613129 Human
SwissProt: Q2NKJ3 Human
Unigene: 156055 Human
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