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. …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …