Aliases for NTHL1 Gene
External Ids for NTHL1 Gene
Previous GeneCards Identifiers for NTHL1 Gene
The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
GeneCards Summary for NTHL1 Gene
NTHL1 (Nth Endonuclease III-Like 1 (E. Coli)) is a Protein Coding gene. Diseases associated with NTHL1 include sclerosing cholangitis and mitochondrial disorders. Among its related pathways are Chks in Checkpoint Regulation and DNA damage_Role of Brca1 and Brca2 in DNA repair. GO annotations related to this gene include double-stranded DNA binding and endonuclease activity.
UniProtKB/Swiss-Prot for NTHL1 Gene
Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyzes the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3 to the AP site by a beta-elimination. Primarily recognizes and repairs oxidative base damage of pyrimidines. Has also 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Is able to process lesions in nucleosomes without requiring or inducing nucleosome disruption.