Entrez gene ID | | 6647 |
Official gene symbol | | SOD1 |
Full name | | superoxide dismutase 1, soluble |
Aliases | | ,ALS,ALS1,IPOA,SOD,homodimer, |
Gene summary | | The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq] |
Location | | Chromosome: 21 Locus: 21q22.1|21q22.11 |
Gene position | | 33031935 - 33041244 Map Viewer |
Gene orientation | | plus |
Gene size | | 9310 bp |
Gene sequence |
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OMIM ID | | 147450 |