基因名:
Ctc1
产品别名:
1500010J02Rik; AAF-132; AAF132; Ctc1; CTS telomere maintenance complex component 1; CTS telomere maintenance complex component 1; CST complex subunit CTC1; alpha accessory factor 132; alpha-accessory factor of 132 kDa; conserved telomere maintenance component 1; 7号染色体开放阅读框68;
背景信息:
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]