Aliases for POLH Gene
External Ids for POLH Gene
Previous GeneCards Identifiers for POLH Gene
This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
GeneCards Summary for POLH Gene
POLH (Polymerase (DNA) Eta) is a Protein Coding gene. Diseases associated with POLH include xeroderma pigmentosum, variant type and polh-related xeroderma pigmentosum. Among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and DNA Double-Strand Break Repair. GO annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is POLK.
UniProtKB/Swiss-Prot for POLH Gene
DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Plays an important role in the repair of UV-induced pyrimidine dimers. Depending on the context, it inserts the correct base, but causes frequent base transitions and transversions. May play a role in hypermutation at immunoglobulin genes. Forms a Schiff base with 5-deoxyribose phosphate at abasic sites, but does not have lyase activity. Targets POLI to replication foci.