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Code:70-071
Key Words: DNA polymerase eta POLH Y-family DNA polymerase Xerderma pigmentosum variant type (XPV) Translesion DNA synthesis Error-prone DNA polymerase UV-sensitive DNA damage tolerance Skin cancer
Function: DNA polymerase eta ( 713 aa 78 kDa) is 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 (Pol iota) to replication foci.
Involvement in disease: Xeroderma pigmentosum variant type (XPV) [MIM:278750]: An autosomal
recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin high predisposition
for developing cancers on areas exposed to sunlight and in some cases neurological abnormalities. XPV
shows normal nucleotide excision repair but an exaggerated delay in recovery of replicative DNA
synthesis. Most patients with the variant type of xeroderma pigmentosum 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.
Immunogen: Human recombinant full-size Pol eta tagged with His6.
Applications: Western blot. Not tested for other application
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