Disease-gene associations mined from literature

Literature associating NEIL2 and Cockayne syndrome

NEIL2 [ENSP00000284503]

DNA-(apurinic or apyrimidinic site) lyase Neil2; Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Has DNA glycosylase activity towards 5-hydroxyuracil and other oxidized derivatives of cytosine with a preference for mismatched double-stranded DNA (DNA bubbles). Has low or no DNA glycosylase activity towards thymine glycol, 2-hydroxyadenine, hypoxanthine and 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.

Synonyms:  NEIL2,  NEIL2p,  hNEIL2,  A0A024R361,  E9PPL4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM