ID:SODM_HUMAN DESCRIPTION: RecName: Full=Superoxide dismutase [Mn], mitochondrial; EC=1.15.1.1; Flags: Precursor; FUNCTION: Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. CATALYTIC ACTIVITY: 2 superoxide + 2 H(+) = O(2) + H(2)O(2). COFACTOR: Binds 1 manganese ion per subunit. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Mitochondrion matrix. INDUCTION: Expression is regulated by KRIT1. PTM: Nitrated under oxidative stress. Nitration coupled with oxidation inhibits the catalytic activity. DISEASE: Genetic variation in SOD2 is associated with susceptibility to microvascular complications of diabetes type 6 (MVCD6) [MIM:612634]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new- onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. SIMILARITY: Belongs to the iron/manganese superoxide dismutase family. WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/sod2/"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SOD2"; WEB RESOURCE: Name=Wikipedia; Note=Superoxide dismutase entry; URL="http://en.wikipedia.org/wiki/Superoxide_dismutase";
ModBase Predicted Comparative 3D Structure on P04179
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