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

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 …

2016年9月14日 · Gene target information for POLH - DNA polymerase eta (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

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.

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.

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.

PolH has a novel role in the DNA damage checkpoint, and a p53 target can modulate the DNA damage response and subsequently regulate p53 activation. Translesion synthesis by human DNA polymerase eta across thymine glycol lesions.

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.

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.

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.