NTHL1 D239Y does not cleave dihydrouracil (DHU)

Stable Identifier
R-HSA-9630055
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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In the NTHL1 D239Y variant, the substitution of aspartic acid residue at position 239 with tyrosine results in an NTHL1 protein that is still able to bind to damaged DNA containing dihydrouracil (DHU), but is unable to cleave DHU (Galick et al. 2013).

Literature References
PubMed ID Title Journal Year
23940330 Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation

Galick, HA, Kathe, S, Liu, M, Robey-Bond, S, Kidane, D, Wallace, SS, Sweasy, JB

Proc. Natl. Acad. Sci. U.S.A. 2013
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Authored
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