Superoxide dismutase 2, mitochondrial (SOD2), also known as manganese-dependent superoxide dismutase (MnSOD), is an enzyme which in humans is encoded by the SOD2 gene on chromosome 6.[5][6] A related pseudogene has been identified on chromosome 1. Alternative splicing of this gene results in multiple transcript variants.[5] 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.[5]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000112096 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006818 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: SOD2 superoxide dismutase 2, mitochondrial".
- ^ Becuwe P, Ennen M, Klotz R, Barbieux C, Grandemange S (Dec 2014). "Manganese superoxide dismutase in breast cancer: from molecular mechanisms of gene regulation to biological and clinical significance". Free Radical Biology & Medicine. 77: 139–151. doi:10.1016/j.freeradbiomed.2014.08.026. PMID 25224035.