This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. (provided by RefSeq)
The gene OGG1 (8-oxoguanine DNA glycosylase) is responsible for the excision of 8-oxoguanine, which is the most common form of oxidative DNA damage and is removed by the base excision repair pathway. OGG1 also has lyase activity that results in a single strand break. Variation in OGG1 (8-oxoguanine DNA glycosylase) is associated with age-related cataract and serves as a genetic biomarker in indicating the same.
