Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer.

The proximal promoter region contains multiple binding sites for transcription factors, including specific-1 (Sp1), activator protein 2 (AP-2), and early growth response 1 (Egr-1).

The active site cavity consists of a network of side chains of several residues associated by hydrogen bonding, extending from the aqueous ligand of the metal.

[5] This function allows SOD2 to clear mitochondrial reactive oxygen species (ROS) and, as a result, confer protection against cell death.

[6] SOD2 uses cyclic proton-coupled electron transfer reactions to convert superoxide (O2•-) into either oxygen (O2) or hydrogen peroxide (H2O2), depending on the oxidation state of the manganese metal and the protonation status of the active site.

[9] The findings demonstrate the use of unusual chemistry by the enzyme that include a glutamine that is cyclically deprotonated and protonated and amino acids with pKas that are significantly different from expected values.

Low-barrier and short-strong hydrogen bonds are seen contributing to catalysis by promoting proton transfers and stabilizing intermediates in a fashion similar to those of some catalytic Asp-Ser-His triads.

In later stages of apoptosis the entire cell becomes fragmented, forming a number of plasma membrane-bounded apoptotic bodies which contain nuclear and or cytoplasmic elements.

The ultrastructural appearance of necrosis is quite different, the main features being mitochondrial swelling, plasma membrane breakdown and cellular disintegration.

Ischemic heart disease, which results from an occlusion of one of the major coronary arteries, is currently still the leading cause of morbidity and mortality in western society.

[17] Although a large burst of ROS is known to lead to cell damage, a moderate release of ROS from the mitochondria, which occurs during nonlethal short episodes of ischemia, can play a significant triggering role in the signal transduction pathways of ischemic preconditioning leading to reduction of cell damage.

[18] Mice lacking Sod2 die shortly after birth, indicating that unchecked levels of superoxide are incompatible with mammalian life.

In the fission yeast Schizosaccharomyces pombe, SOD2 deficiency, drastically increased cellular aging and decreased cell viability in the stationary phase of the growth cycle.

In the study Multiple measures of functionality exhibit progressive decline in a parallel, stochastic fashion in Drosophilla Sod2 mutants.

Mutant mice with a connective tissue specific lack of SOD2 had a reduced lifespan and a premature onset of aging-related phenotypes such as weight loss, skin atrophy, kyphosis (curvature of the spine), osteoporosis, and muscle degeneration.