Superoxide Dismutase 1, Soluble (SOD1) - Супероксиддисмутаза 1

Superoxide dismutase 1, soluble is a human protein and gene. This gene encodes one of three forms of the human superoxide dismutase. SOD1 binds copper and zinc ions and is one of three isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic and mitochondrial intermembrane space protein, acting as a homodimer to convert naturally occurring, but harmful, superoxide radicals to molecular oxygen and hydrogen peroxide. Mutations (over 100 identified to date) in this gene have been linked to familial amyotrophic lateral sclerosis. The most frequent mutation are A4V (in the U.S.A.) and H46R (Japan). The most studied ALS mouse model is G93A. Rare transcript variants have been reported for this gene.