Superoxide Dismutase (SOD2) Human Mn 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. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]

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: EC 1.15.1.1; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 6q25.3

Cellular Component: mitochondrial matrix; mitochondrion

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

Biological Process: acetylcholine vasodilation involved in regulation of systemic arterial blood pressure; age-dependent response to reactive oxygen species; negative regulation of cell proliferation; negative regulation of neuron apoptosis; oxygen homeostasis; protein homotetramerization; regulation of blood pressure; regulation of transcription from RNA polymerase II promoter; release of cytochrome c from mitochondria; removal of superoxide radicals; response to reactive oxygen species; response to superoxide; superoxide metabolic process

Disease: Microvascular Complications Of Diabetes, Susceptibility To, 6