SOD1
LOCUS ID6647
GENE_SYMBOLSOD1
GENE NAMEsuperoxide dismutase 1, soluble
SYNONYMNSALS, SOD, ALS1, IPOA, hSod1, HEL-S-44, homodimer
CHROMOSOME21
HOMOLOGENE ID392
microRNAsNANA
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, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The present demonstrate that deficiency of SOD1, but not SOD3, increases renal superoxide in the setting of diabetes and causes overt renal injury in nephropathy-resistant diabetic mice, and that SOD3 deficiency does not provide additive effects on the severity of DN in SOD1-deficient C57BL/6-Akita mice.22632894
Retinopathy1. The potential benefit of SOD1 overexpression to inhibit retinal abnormalities in this model is limited by the retinal and vascular degeneration that develops independently of diabetes.19074809