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 Like DNA Glycosylase 1) is a Protein Coding gene. Diseases associated with NTHL1 include Familial Adenomatous Polyposis 3 and Attenuated Familial Adenomatous Polyposis. Among its related pathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include double-stranded DNA binding and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is ENSG00000288208.
UniProtKB/Swiss-Prot Summary 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.