Superoxide Dismutase-2 (SOD2) Human Active Protein

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. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

SOD2: Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. Genetic variation in SOD2 is associated with susceptibility to microvascular complications of diabetes type 6 (MVCD6). 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. Belongs to the iron/manganese superoxide dismutase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; EC 1.15.1.1; Oxidoreductase

Chromosomal Location of Human Ortholog: 6q25.3

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane

Molecular Function: identical protein binding; DNA binding; manganese ion binding; superoxide dismutase activity; oxygen binding

Biological Process: oxygen homeostasis; positive regulation of nitric oxide biosynthetic process; removal of superoxide radicals; heart development; locomotory behavior; response to lipopolysaccharide; response to L-ascorbic acid; post-embryonic development; protein homotetramerization; negative regulation of cell proliferation; response to selenium ion; glutathione metabolic process; regulation of mitochondrial membrane potential; acetylcholine vasodilation involved in regulation of systemic arterial blood pressure; regulation of catalytic activity; regulation of blood pressure; response to gamma radiation; hemopoiesis; negative regulation of neuron apoptosis; response to axon injury; response to electrical stimulus; response to drug; erythrophore differentiation; response to superoxide; release of cytochrome c from mitochondria; superoxide metabolic process; negative regulation of fat cell differentiation; liver development; regulation of transcription from RNA polymerase II promoter; response to manganese ion; response to reactive oxygen species; iron ion homeostasis; response to silicon dioxide; response to cadmium ion; response to hyperoxia; response to hydrogen peroxide; DNA damage response, signal transduction resulting in induction of apoptosis; response to zinc ion; detection of oxygen; age-dependent response to reactive oxygen species; negative regulation of fibroblast proliferation; response to hypoxia; neuron development; response to activity; response to cold; superoxide release; induction of apoptosis by oxidative stress; hydrogen peroxide biosynthetic process

Disease: Microvascular Complications Of Diabetes, Susceptibility To, 6