3mr5: Difference between revisions
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{{STRUCTURE_3mr5| PDB=3mr5 | SCENE= }} | {{STRUCTURE_3mr5| PDB=3mr5 | SCENE= }} | ||
===Human DNA polymerase eta - DNA ternary complex with a CPD 1bp upstream of the active site (TT3)=== | |||
{{ABSTRACT_PUBMED_20577208}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/POLH_HUMAN POLH_HUMAN]] Defects in POLH are the cause of xeroderma pigmentosum variant type (XPV) [MIM:[http://omim.org/entry/278750 278750]]; also designated as XP-V. Xeroderma pigmentosum (XP) is an autosomal recessive disease due to deficient nucleotide excision repair. It is characterized by hypersensitivity of the skin to sunlight, followed by high incidence of skin cancer and frequent neurologic abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most XPV patients do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.<ref>PMID:10385124</ref><ref>PMID:10398605</ref><ref>PMID:11032022</ref><ref>PMID:11121129</ref><ref>PMID:11773631</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/POLH_HUMAN POLH_HUMAN]] 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.<ref>PMID:10385124</ref><ref>PMID:11743006</ref><ref>PMID:11376341</ref><ref>PMID:14630940</ref><ref>PMID:14734526</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:020577208</ref><references group="xtra"/> | <ref group="xtra">PMID:020577208</ref><references group="xtra"/><references/> | ||
[[Category: DNA-directed DNA polymerase]] | [[Category: DNA-directed DNA polymerase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||