POLH Antibody – Polyclonal

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]

POLH: 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. Interacts with REV1. Interacts with monoubiquitinated PCNA, but not unmodified PCNA. Interacts with POLI. Belongs to the DNA polymerase type-Y family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transferase; EC 2.7.7.7; DNA repair, damage

Chromosomal Location of Human Ortholog: 6p21.1

Cellular Component: cytoplasm; nucleoplasm

Molecular Function: damaged DNA binding; DNA-directed DNA polymerase activity; metal ion binding; protein binding

Biological Process: bypass DNA synthesis; DNA repair; DNA replication; DNA synthesis during DNA repair; pyrimidine dimer repair; regulation of DNA repair; response to UV-C

Disease: Xeroderma Pigmentosum, Variant Type