Ask about this productRelated genes to: CHTF18 antibody
- Gene:
- CHTF18 NIH gene
- Name:
- chromosome transmission fidelity factor 18
- Previous symbol:
- C16orf41
- Synonyms:
- CHL12, C321D2.4, Ctf18
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-04-04
- Date modifiied:
- 2015-06-19
Related products to: CHTF18 antibody
Related articles to: CHTF18 antibody
- Laryngeal cancer (LC) is a common malignant tumor. Telomere-related genes (T-RGs) play critical roles in cellular senescence and carcinogenesis, but their prognostic relevance in LC remains to be fully elucidated. Therefore, exploring the prognostic genes related to telomeres in LC is important. - Source: PubMed
Publication date: 2026/04/08
Cheng YesongZhao YingjieHe LinHuang DingqiangZhao FeipengShi XiangyangTang WensongLiu YiZou WujunTang XiaolongHe Yi - The objective of this study was to identify key idiopathic pulmonary fibrosis (IPF) related genes, thereby establishing a novel IPF diagnostic/warning panel and proposing drugs against IPF based on the strategy of targeting key genes. - Source: PubMed
Publication date: 2026/01/15
Song YuMeng XianglinTian JiaqiHao YunheZeng KaiZhang LikunZhang JiannanZhang KailiXin YuWang ChangsongYu Kaijiang - The maintenance of genome stability requires efficient leading strand synthesis by DNA Polymerase Epsilon (Polε). By performing CRISPR genetic screens in cells lacking the POLE4 subunit of Polε we define a genetic map of the factors required to support Polε function in the absence of its accessory subunits. A set of genes involved in iron metabolism emerge as required to sustain Iron Sulphur Cluster (ISC)-dependent Polε activity. We then dissect a synthetic lethal interaction between POLE3-POLE4 and the CHTF18-RFC2/5 complex. By combining cell biology, structural modelling and biochemistry, we define the existence of two tiers of regulation of Polε processivity: leading strand-specific loading of PCNA by CHTF18-RFC2/5 and "gripping" of newly synthesised dsDNA by POLE3-POLE4. The combined loss of these functions is incompatible with leading strand synthesis and viability. In summary, we describe the biochemical basis of human leading strand synthesis and the consequence of its dysfunction in genome stability. - Source: PubMed
Publication date: 2025/12/04
Agnarelli AlessandroBuckley-Benbow LaurynOzgencil MeryemLad MelanieAmpah Khamal KwesiKalinka AlexBelan OndrejMaslen SarahSkehel Mark JWalter DavidDay MatthewBellelli Roberto - Cohesin is a multiprotein complex that maintains chromosome integrity during cell division. Disruptions in cohesin or its regulators, including CHTF18, can lead to neurodevelopmental and congenital disorders known as cohesinopathies. CHTF18 participates in cohesin loading during DNA replication, but its role in human disease is not understood. Through exome analysis of >665,000 individuals, we identified multiple (<10) unrelated individuals with rare missense variants in CHTF18 and overlapping clinical phenotypes suggestive of a cohesinopathy disorder. Among these, three individuals with neurodevelopmental delay and epilepsy, each carrying a previously unreported rare de novo variant in CHTF18, are presented in detail. Overlapping clinical features of additional individuals who were not available for case-level consent are presented in aggregate. All the CHTF18 variants in the cohort were located in the vicinity of the AAA+ATPase domain of CHTF18, which plays a crucial role in cohesin loading during DNA replication. In addition to cohort findings from our large database, the function, relevance, and pathway involvement of CHTF18 make it a promising candidate gene for disease. The study calls for further research to explore the role of CHTF18 variants in disease and highlights the importance of including CHTF18 as a candidate gene in broad genetic testing for individuals with unsolved neurodevelopmental conditions. - Source: PubMed
Publication date: 2025/07/26
Aref-Eshghi ErfanWentzensen Ingrid MBen-Omran TawfegBux Reem IbrahimGold Nina BMcRoy ErinNguyen HoanhO'Grady LaurenTu Shao ChingChen YanminFolk LeandraMcGivern Bobbi - Newborn screening for immunodeficiency has led to the identification of numerous cases for which the causal etiology is unknown. - Source: PubMed
Publication date: 2025/02/14
Sertori RobertTruong BillySingh Manoj KShinton SusanPrice RachaelSharo AndrewShultes PaulameenaSunderam UmaRana SadhnaSrinivasan RajgopalDatta SutapaFont-Burgada JoanBrenner Steven EPuck Jennifer MWiest David L