EC Number |
General Information |
Reference |
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3.2.2.23 | malfunction |
csb-/- mice with Cockayne syndrome, a segmental premature aging syndrome with progressive neurological degeneration caused by mutations in CS complementation groups A, CSA, or B, CSB, genes, show increased 2,6-diamino-4-hydroxy-5-formamidopyrimidine and 4,6-diamino-5-formamidopyrimidine concentrations in in genomic DNA and mtDNA, and reduced repair function due to mutation of the endonuclease VIII-like DNA glycosylase NEIL1, overview |
709080 |
3.2.2.23 | malfunction |
mice lacking both NTH1 and NEIL1 demonstrate a marked increase in pulmonary and hepatic tumorigenesis compared to mice lacking either NTH1 or NEIL1. Specifically, the lung tumors contain a point mutation in codon 12 of the K-ras oncogene which is a GGT to GAT transition, overview |
-, 708311 |
3.2.2.23 | malfunction |
OGG1 polymorphisms might be associated with succeptibility of humans to cancer and other diseases |
708484 |
3.2.2.23 | malfunction |
patients with Cockayne syndrome, a segmental premature aging syndrome with progressive neurological degeneration caused by mutations in CS complementation groups A, CSA, or B, CSB, genes, show increased 2,6-diamino-4-hydroxy-5-formamidopyrimidine and 4,6-diamino-5-formamidopyrimidine concentrations in in genomic DNA and mtDNA, and reduced repair function due to mutation of the endonuclease VIII-like DNA glycosylase NEIL1, overview |
709080 |
3.2.2.23 | malfunction |
there is significant accumulation of 2,6-diamino-4-hydroxy-5-formamidopyrimidine, (5'R)-8,5'-cyclo-2'-deoxyadenosine and (5'S)-8,5'-cyclo-2'-deoxyadenosine in liver DNA of neil1knockout mice that are not exposed to exogenous oxidative stress |
714180 |
3.2.2.23 | metabolism |
DNA glycosylases play a key role in the base excision repair pathway, Fpg belongs to the class of DNA glycosylases/abasic site lyases excising several oxidatively damaged purines in the base excision repair pathway |
710030 |
3.2.2.23 | physiological function |
Fpg selectively facilitates eversion of 8-oxoguanine by stabilizing several intermediate states, helping the rapidly sliding enzyme avoid full extrusion of every encountered base for interrogation |
751732 |
3.2.2.23 | physiological function |
Fpg-expressing cells show increased susceptibility to methylmercury-initiated cytotoxicity |
732941 |
3.2.2.23 | physiological function |
NEIL1 is a DNA glycosylase that is involved in the first step of base excision repair of oxidatively induced DNA damage. NEIL1 is involved in nucleotide excision repair of (5'R)-8,5'-cyclo-2'-deoxyadenosine and (5'S)-8,5'-cyclo-2'-deoxyadenosine |
714180 |
3.2.2.23 | physiological function |
NEIL1 plays a role during transcription |
709080 |