CST complex subunit CTC1 (UniProt Q2NKJ3; also known as Conserved telomere maintenance component 1, HBV DNAPTP1-transactivated protein B) is encoded by the CTC1 (also known as C17orf68, CRMCC) gene (Gene ID 80169) in human. CTC1 is a subunit of the trimeric CST (CTC1, STN1, and TEN1) complex that binds ssDNA, promotes telomere DNA synthesis, and inhibits telomerase-mediated telomere elongation. CST directly interacts with and stimulates DNA polymerase alpha-primase (polalpha-primase) activity. CST also associates with and sequesters telomeric 3' overhangs after their elongation by telomerase, thereby limiting further telomere extension by telomerase. Knockdown of either STN1 or CCT1 in human cancer cells and in mouse fibroblasts results in substantially elongated telomeric G-overhangs. Conditional deletion of CTC1 in mice leads to early entry into senescence and signs of telomeric replication defects, Human CTC1 gene mutations casue dyskeratosis congenita (DC) and related bone marrow failure syndromes, as well as the rare autosomal recessive neurological disorder Coats Plus, where patients develop cranial calcifications and cysts. Coats Plus and DC patients develop premature hair graying, anemia, and osteoporosis as a result of telomerase defects.
Synonyms: CST complex subunit CTC1, Conserved telomere maintenance component 1, HBV DNAPTP1-transactivated protein B
Application: Research Sub CategoryCell Cycle, DNA Replication & Repair
Other Notes: Concentration: Please refer to lot specific datasheet.