SOD1 : superoxide dismutase 1

Description

The SOD1 gene, located on chromosome 21, provides instructions for making the enzyme superoxide dismutase 1 (SOD1). This enzyme is a vital antioxidant, primarily found in the cytoplasm of cells, where it protects against damaging free radicals. SOD1 catalyzes the conversion of superoxide radicals, highly reactive oxygen species, into hydrogen peroxide and oxygen, preventing cellular damage. This process is crucial for maintaining cell survival and preventing various diseases. Mutations in the SOD1 gene can disrupt this protective function, leading to the accumulation of harmful free radicals and the development of several debilitating conditions.

Associated Diseases

• Amyotrophic lateral sclerosis (ALS)
• Familial ALS
• Frontotemporal dementia (FTD)
• Spinal muscular atrophy (SMA)

Did you know?

SOD1 is a key player in the detoxification of reactive oxygen species (ROS) generated during normal cellular metabolism. It‘s essential for protecting against oxidative stress.