CST telomere replication complex component 1
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Diagnostic Grade (Green)
COVID-19 research
BIALLELIC, autosomal or pseudoautosomalCytopenia - NOT Fanconi anaemia
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalHaematological malignancies for rare disease
BIALLELIC, autosomal or pseudoautosomalIntracerebral calcification disorders
BIALLELIC, autosomal or pseudoautosomal+9 more panels — install the extension to see the full list inline on any page.
Coats plus syndrome
dyskeratosis congenita
hereditary disease
inherited bone marrow failure syndrome
myelodysplastic syndrome
acute myeloid leukemia
Bone marrow hypocellularity
neurodegenerative disease
mathematical ability
retinal disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
CST complex subunit CTC1
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 (PubMed:19854130). 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 (PubMed:22763445). 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 (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity)
CTC1 · Q2NKJ3
Mean pLDDT
77.5/ 100
Confident
1,217 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
