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SOD1

gene
Also known as: superoxide dismutase 1

Quick Summary

The SOD1 gene provides instructions for making an enzyme called superoxide dismutase. This enzyme acts as an antioxidant, protecting cells from damage caused by harmful molecules called free radicals, which are by-products of normal cell metabolism.123

In some cases of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig disease, mutations in the SOD1 gene are linked to the condition. These mutations can impair the enzyme's ability to neutralize free radicals, potentially leading to the destruction of motor neurons. Familial ALS, which is inherited, accounts for about 5-10% of all ALS cases, and SOD1 mutations are found in approximately 20% of these familial cases.413

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