NEIL3 D132V does not cleave 5-guanidinohydantoin (Gh)

Stable Identifier
Reaction [transition]
Homo sapiens
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NEIL3 D132V is a NEIL3 disease variant caused by a missense mutation that results in the substitution of aspartic acid residue (D) at position 132 to valine (V). NEIL3 D132V is unable to cleave 5-guanidinohydantoin (Gh) from oxidatively damaged DNA. Individuals harbouring a homozygous NEIL3 D132V mutation are predisposed to development of autoimmune diseases (Massaad et al. 2016). Primary fibroblasts from a patient with a NEIL3 D132V homozygous mutation show an increase in telomere loss compared to control wild type fibroblasts derived from the patient's healthy sibling (Zhou et al. 2017).

Literature References
PubMed ID Title Journal Year
27760045 Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

Chou, J, Megarbane, A, Ohsumi, TK, Jabara, H, Geha, RS, Al-Herz, W, Aldhekri, H, Tsokos, GC, Glauzy, S, Morbach, H, Olson, BG, Manis, JP, Al-Idrissi, E, Schmitz, K, Kyriacos, M, Chouery, E, Torisu, K, Nakabeppu, Y, Massaad, MJ, Wallace, SS, Kane, J, Zhou, J, Mizui, M, Janssen, E, Kang, PB, Meffre, E, Notarangelo, LD, Tsuchimoto, D

J. Clin. Invest. 2016
Normal reaction
Functional status

Loss of function of NEIL3 D132V:Gh-DNA [nucleoplasm]

Name Identifier Synonyms
autoimmune hypersensitivity disease DOID:417 autoimmune disease, hypersensitivity reaction type II disease
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