Disease-gene associations mined from literature

Literature associating CTC1 and dyskeratosis congenita

CTC1 [ENSP00000313759]

CTS telomere maintenance complex component 1; Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. 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. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha. The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins. Involved in telomere maintenance. Involved in genome stability. May be in involved in telomeric C-strand fill- in during late S/G2 phase (By similarity); Belongs to the CTC1 family.

Synonyms:  CTC1,  CTC1p,  hCTC1,  J3KSR1,  Q2NKJ3 ...

Linkouts:  STRING  Pharos  UniProt