OGG1

Full Name: 8-Oxoguanine DNA Glycosylase

Genomic Location: Chromosome 3:9,749,944-9,788,246 

Protein Size: 345 amino acids

Function:

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.

Linked SNP(s):

  • rs1052133 is linked to OGG1, it is located within a complicated alternate transcript region.
  • Population frequencies are approximately 73% for the reference allele (C) and 27% for the alternate allele (G).
  • Studies suggest the G allele is associated with a slightly increased risk for disease, but this is attenuated when eating diets rich in vegetables.
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