SOD1
SOD1 or Superoxide Dismutase 1 is an enzyme that in humans is encoded by the SOD1 gene. It is one of three human superoxide dismutases. It is implicated in amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects nerve cells in the brain and spinal cord.
Function
SOD1 is a soluble cytoplasmic and mitochondrial intermembrane space protein. It 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 homodimer and is thought to protect cells from superoxide damage, while its dysfunction is associated with several diseases.
Clinical Significance
Mutations in the SOD1 gene are associated with familial amyotrophic lateral sclerosis (ALS). Research has suggested that the mutations cause a toxic gain of function, rather than loss of enzymatic activity. This is thought to be a major driver of the pathology of ALS.
See Also
References
External Links
- SOD1 on WikiMD
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Contributors: Prab R. Tumpati, MD
