Full Name: Superoxide Dismutase 2
Genomic Location: Chromosome 6:159,669,069-159,745,186
Protein Size: 222 amino acids
This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer.
- rs4880 is linked to SOD2, it is located within the protein coding region.
- Population frequencies are approximately 52% for the reference allele (T) and 48% for the alternate allele (C).
- Studies suggest the T allele is associated with an increased need for antioxidants and slower recovery following exercise.