Disease-gene associations mined from literature

Literature associating NTHL1 and hereditary mixed polyposis syndrome

NTHL1 [ENSP00000219066]

Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase; 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.

Synonyms:  NTHL1,  NTHL1p,  hNTHL1,  E5KTI5,  NTHL1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM