SOD1 (superoxide dismutase 1) is the major soluble cytoplasmic enzyme responsible for destroying harmful free superoxide radicals in the body thereby providing defence against oxygen free-radical toxicity. Soluble cytoplasmic SOD1 is a copper- and zinc-containing enzyme and the SOD1 gene maps to chromosome 21q22. Mutations in the SOD1 gene have been implicated to be the cause of familial amyotrophic lateral sclerosis, increased age-related muscle mass loss, early development of cataracts, macular degeneration, thymic involution, hepatocellular carcinoma, and shortned lifespan.
Current opinion in neurology, 13(4), 397-405 (2000-09-02)
The mechanisms by which mutations of the SOD1 gene cause selective motor neuron death remain uncertain, although interest continues to focus on the role of peroxynitrite, altered peroxidase activity of mutant SOD1, changes in intracellular copper homeostasis, protein aggregation, and
Proceedings of the National Academy of Sciences of the United States of America, 80(18), 5465-5469 (1983-09-01)
Cytoplasmic superoxide dismutase (SOD-1; EC 1.15.1.1) is encoded by human chromosome 21. The SOD-1 gene locus is located at chromosomal region 21q22, which is involved in Down syndrome. cDNA clones containing sequences of human SOD-1 were previously isolated. In the
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