SOD1 Chromosome 21
Superoxide dismutase 1
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What This Gene Does
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. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. 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 2020]
Gene Info
Gene Group
Superoxide dismutases
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000142168
Associated Conditions (13)
Amyotrophic lateral sclerosis type 1
SOD1-related disorder
Amyotrophic lateral sclerosis 1
autosomal recessive
Spastic tetraplegia and axial hypotonia
progressive
Inborn genetic diseases
Motor neuron disease
Abnormal central motor function
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis type 10
Limb muscle weakness
See cases
Key Variants
RS1030039318
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Amyotrophic lateral sclerosis type 1
Health Risk
RS121912459
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis 1, autosomal recessive, Amyotrophic lateral sclerosis type 1
Health Risk
RS1240334553
Conflicting classifications of pathogenicity
Spastic tetraplegia and axial hypotonia, progressive, Amyotrophic lateral sclerosis type 1
Health Risk
RS1301635320
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS1410925719
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS1424217272
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Amyotrophic lateral sclerosis type 1
Health Risk
RS1428716759
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia, progressive
Health Risk
RS1568810660
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS1568811372
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS1568811445
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS1568811489
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
Health Risk
RS1804449
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Inborn genetic diseases
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121912435 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 10, SOD1-related disorder |
| RS121912437 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Motor neuron disease |
| RS121912438 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912439 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Motor neuron disease, Amyotrophic lateral sclerosis type 1 |
| RS121912440 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Amyotrophic lateral sclerosis type 1 |
| RS121912442 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Amyotrophic lateral sclerosis type 1 |
| RS121912443 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis, SOD1-related disorder |
| RS121912444 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912446 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Limb muscle weakness |
| RS121912447 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912448 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912449 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912450 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912451 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912452 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912454 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912457 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912458 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1482760341 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Amyotrophic lateral sclerosis type 1 |
| RS1555836169 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1555836889 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568807297 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Amyotrophic lateral sclerosis type 1 |
| RS1568810715 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568810789 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1601158483 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS369600566 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS74315452 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1197141604 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1200906022 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912432 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS121912436 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, SOD1-related disorder, Spastic tetraplegia and axial hypotonia |
| RS121912441 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Motor neuron disease, SOD1-related disorder |
| RS1280042397 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1315541036 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia, progressive |
| RS1339283341 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1378590183 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis |
| RS1457889952 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, See cases, SOD1-related disorder |
| RS1476760624 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1555836170 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia, progressive |
| RS1555836950 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568807400 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568809149 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568809169 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568809172 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568810275 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568810316 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568810641 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568811366 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568811423 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |
| RS1568811454 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1 |