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Gene Symbol POLH
Synonyms RAD30 | RAD30A | XP-V | XPV
Gene Description POLH, DNA polymerase eta, is involved in translesion synthesis during DNA replication (PMID: 10856253, PMID: 36672916), which enables bypass of bulky DNA lesions, including UV-induced thymine dimers (PMID: 10385124, PMID: 35952573), and plays a role in the DNA damage checkpoint response through activation of Tp53 (PMID: 16449651) and participates in the replication of genomic DNA regions that are difficult to replicate (PMID: 36672916). Mutations in POLH have been identified in xeroderma pigmentosum, which is associated with increased risk of both non-melanoma skin cancer (PMID: 22044607) and skin melanoma (PMID: 19477635).
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