CHTF8
Chr 16chromosome transmission fidelity factor 8
Also known as: CTF8, DERPC
The protein forms part of the CTF18-RFC complex that loads PCNA onto DNA during replication and repair, and is essential for sister chromatid cohesion and faithful chromosome transmission. Loss-of-function mutations cause an autosomal recessive intellectual disability syndrome with microcephaly and growth retardation. The pathogenic mechanism involves defective DNA replication and chromosome cohesion leading to genomic instability during development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CHTF8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools