2024年12月25日 · POLH (DNA Polymerase Eta) is a Protein Coding gene. Diseases associated with POLH include Xeroderma Pigmentosum, Variant Type and Dyskeratosis Congenita. Among its related pathways are HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) and Translesion synthesis by Y family DNA …

The gene encoding DNA polymerase eta is POLH, also known as XPV, because loss of this gene results in the disease xeroderma pigmentosum. Polymerase eta is particularly important for allowing accurate translesion synthesis of DNA damage resulting from ultraviolet radiation or UV.

2016年9月14日 · The POLH gene provides instructions for making a protein called DNA polymerase eta. DNA polymerases are a group of enzymes that "read" sequences of DNA and use them as templates to produce new DNA. These enzymes are important for copying (replicating) cells' genetic material in preparation for cell division.

The POLH gene provides instructions for making a protein called DNA polymerase eta. Learn about this gene and related health conditions.

2024年11月27日 · Title: Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families. Manganese Is a Strong Specific Activator of the RNA Synthetic Activity of Human Poleta.

2024年12月10日 · Clinical resource with information about POLH, Xeroderma pigmentosum variant type, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2022年7月1日 · 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 ...

The short PolH transcript with 427-nt 3’UTR is primarily responsible for elevated PolH expression and subsequently, PolH-mediated cisplatin resistance. Open in a new tab (A-B) Schematic diagrams illustrating the strategy to use CRISPR-Cas9 technology to generate PolH-S-KO (A) and PolH-L-KO (B) cell lines.

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 a …

PolH acts like a molecular splint to stabilize damaged DNA in a normal B-form conformation. An enlarged active site accommodates the thymine dimer with excellent stereochemistry for 2-metal ion catalysis.