| SOD1 |
| LOCUS ID | 6647 | |||||||||||||
| GENE_SYMBOL | SOD1 | |||||||||||||
| GENE NAME | superoxide dismutase | |||||||||||||
| SYNONYMNS | ALS, SOD, ALS1, IPOA, hSod1, HEL-S-44, homodimer | |||||||||||||
| CHROMOSOME | 21 | |||||||||||||
| HOMOLOGENE ID | 392 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| 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 |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. 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 |
| Retinopathy | 1. 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 |