NTHL1
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Endonuclease III-like protein 1 is an enzyme that in humans is encoded by the NTHL1 gene.[1][2][3]
As reviewed by Li et al.,[4] 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,[5] leaving a 3'-unsaturated aldehyde after beta-elimination and a 5'-phosphate at the termini of the repair gap.[4]
Low expression of NTHL1 is associated with initiation and development of astrocytoma.[6] Low expression of NTHL1 is also found in follicular thyroid tumors.[7]
A germ line homozygous mutation in NTHL1 causes a cancer susceptibility syndrome similar to Lynch syndrome.[8][9]
See also
[edit | edit source]References
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Further reading
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