Reactome | NEIL3 D132V is a NEIL3 disease variant caused by a missense ...

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created	[InstanceEdit:9629244] Orlic-Milacic, Marija, 2018-11-19
dbId	9629231
displayName	NEIL3 D132V is a NEIL3 disease variant caused by a missense ...
literatureReference	[LiteratureReference:9629236] Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity [LiteratureReference:9629201] NEIL3 Repairs Telomere Damage during S Phase to Secure Chromosome Segregation at Mitosis
modified	[InstanceEdit:9635982] Orlic-Milacic, Marija, 2019-02-11
schemaClass	Summation
text	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).

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