NEIL1 G83D does not cleave DHU

Stable Identifier
R-HSA-9628737
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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NEIL1 G83D variant is a low frequency polymorphism, estimated to occur in ~1% of US population (Roy et al. 2007), and is associated with primary sclerosing cholangitis and cholangiocarcinoma (Forsbring et al. 2009). NEIL G83D shows 3-8 fold reduced activity in excising DHU (dihydrouracil) from damaged DNA (Prakash et al. 2014).

Literature References
PubMed ID Title Journal Year
24382305 Genome and cancer single nucleotide polymorphisms of the human NEIL1 DNA glycosylase: activity, structure, and the effect of editing

Prakash, A, Carroll, BL, Sweasy, JB, Wallace, SS, DoubliƩ, S

DNA Repair (Amst.) 2014
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
cancer 162 malignant tumor, malignant neoplasm, primary cancer
Authored
Reviewed
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