DISEASES

Disease-gene associations mined from literature

Literature on NEIL1

NEIL1 [ENSP00000347170]

Endonuclease 8-like 1; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as DNA glycosylase that recognizes and removes damaged bases. Has a preference for oxidized pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and 5'-phosphates. Has DNA glycosylase/lyase activity towards mismatched uracil and thymine, in particular in U:C and T:C mismatches. Specifically binds 5- hydroxymethylcytosine (5hmC), suggesting that it acts as a specific reader of 5hmC. ECO:0000269|PubMed:12200441, ECO:0000269|PubMed:12509226,; Belongs to the FPG family.

Synonyms:  NEIL1,  NEIL1p,  hNEIL1,  H3BM98,  H3BN83 ...

Linkouts:  STRING  Pharos  UniProt  OMIM