Article
Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.
Mutation research. Reviews in mutation research - 1 Jan 2000
Feltes Bruno César, Menck Carlos Frederico Martins
Abstract excerpt
POLη, encoded by the POLH gene, is a crucial protein for replicating damaged DNA and the most studied specialized translesion synthesis polymerases. Mutations in POLη are associated with cancer and the human syndrome xeroderma pigmentosum variant, which is characterized by extreme photosensitivity and an increased likelihood of developing skin cancers. The myriad of structural information about POLη is vast,...
Topics
- Humans
- DNA Damage
- DNA Replication
- DNA-Directed DNA Polymerase
- Mutation
- Xeroderma Pigmentosum