NTHL1
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Endonuclease III-like protein 1 is an enzyme that in humans is encoded by the NTHL1 gene.[5][6][7]
As reviewed by Li et al.,[8] NTHL1 is a bifunctional DNA glycosylase that has an associated beta-elimination activity. NTHL1 is usually involved in removing oxidative pyrimidine lesions through base excision repair. NTHL1 catalyses the first step in base excision repair. It cleaves the N-glycosylic bond between the damaged base and its associated sugar residue and then cleaves the phosphodiester bond 3' to the AP site,[9] leaving a 3'-unsaturated aldehyde after beta-elimination and a 5'-phosphate at the termini of the repair gap.[8]
Low expression of NTHL1 is associated with initiation and development of astrocytoma.[10] Low expression of NTHL1 is also found in follicular thyroid tumors.[11]
A germ line homozygous mutation in NTHL1 causes a cancer susceptibility syndrome similar to Lynch syndrome.[12][13]
