NEIL3

Chr 4

nei like DNA glycosylase 3

Also known as: FGP2, FPG2, NEI3, ZGRF3, hFPG2, hNEI3

NCBI Gene: 55247 ENSG00000109674 UniProt: Q8TAT5 OMIM: 608934

NEIL3 encodes a DNA glycosylase that repairs oxidative DNA damage by cleaving damaged bases and introducing strand breaks to initiate base excision repair, with particular activity on single-stranded DNA and specialized lesions like spiroiminodihydantoin and guanidinohydantoin. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. The gene shows minimal constraint against loss-of-function variants (LOEUF 1.081), which is consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…