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SOD2 |
LOCUS ID | 6648 | |||||||||||||
GENE_SYMBOL | SOD2 | |||||||||||||
GENE NAME | superoxide dismutase 2, mitochondrial | |||||||||||||
SYNONYMNS | IPOB, MNSOD, MVCD6 | |||||||||||||
CHROMOSOME | 6 | |||||||||||||
HOMOLOGENE ID | 530 |
microRNAs | NA | NA |
GENE SUMMARY |
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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. Alterte transcriptiol splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] |
OBSERVATIONS |
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Complication | Evidence | PMID |
Retinopathy | 1. Histone methylation of retinal Sod2 has an important role in the development of diabetic retinopathy and in the metabolic memory phenomenon associated with its continued progression. | 23221071 |
Neuropathy | 1. DN was observed in the C57BL/6Jdb/db mouse, and decreased expression of SOD2 in these animals increased DN. Our data suggest that SOD2 activity is an important cellular modifier of neuronal oxidative defense against hyperglycemic injury. | 17927981 |