Overview:

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 (1). 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 (2).

Gene Aliases:

Cu/Zn-SOD, ALS, SOD, ALS1, IPOA, Homodimer, Superoxide Dismutase 1

Genbank Number:

NM_000454

References:

1. Sherman, L. et al: Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA. Proc. Nat. Acad. Sci. 80: 5465-5469, 1983.

2. Al-Chalabi, Ammar, Recent advances in amyotrophic lateral sclerosis". Current Opinion in Neurology, 2000, 13 (4): 397–405.