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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SOD1
superoxide dismutase 1
Chromosome 21 Β· 21q22.11
NCBI Gene: 6647Ensembl: ENSG00000142168.16HGNC: HGNC:11179UniProt: P00441
1,328PubMed Papers
22Diseases
1Drugs
130Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
removal of superoxide radicalscytoplasmpositive regulation of cytokine productionpositive regulation of superoxide anion generationamyotrophic lateral sclerosisfamilial amyotrophic lateral sclerosissporadic amyotrophic lateral sclerosisspastic tetraplegia and axial hypotonia, progressive
✦AI Summary

SOD1 is a primary antioxidant enzyme that catalyzes the dismutation of superoxide radicals to prevent cellular damage 1. Beyond its canonical antioxidant role, SOD1 catalyzes oxidation of hydrogen sulfide to sulfate, detoxifying reactive sulfur species 2. SOD1 localizes to multiple cellular compartments including the cytosol, nucleus, and mitochondria, with nuclear presence particularly prominent in motor neurons 3. Mutations in SOD1 cause ~20% of familial ALS through a gain-of-toxic-function mechanism 45. Pathogenic SOD1 variants induce aberrant protein aggregation and oligomerization, with nucleation occurring through formation of inactive monomers, trimers, and hexamers with reduced disulfide bonds 6. Mutant SOD1 accumulates in nuclear compartments where it associates with NADPH oxidase activation, increased superoxide production, and progressive DNA damage 3. Additionally, oxidized SOD1 from ALS mutations impairs mitochondrial-derived vesicle formation and directly drives cellular senescence and premature aging 7. SOD1 aggregates appear in both familial SOD1-ALS and sporadic ALS cases, suggesting SOD1 seeding activity as a potential biomarker 8. Gene-silencing therapy with antisense oligonucleotides or tofersen targeting SOD1 mRNA extends survival in preclinical models and represents an emerging clinical treatment for SOD1-ALS patients 49.

Sources cited
1
SOD1 destroys superoxide radicals toxic to biological systems
PMID: 24140062
2
SOD1 catalyzes oxidation of hydrogen sulfide and detoxifies reactive sulfur species
PMID: 36630448
3
SOD1 mutations cause ~20% of familial ALS; antisense oligonucleotides reduce SOD1 and extend survival in ALS models
PMID: 30010620
4
SOD1 mutations in familial ALS cause gain of toxic function rather than loss of activity
PMID: 9266431
5
Pathogenic SOD1 variants form aberrant aggregates through nucleation of inactive oligomers with reduced disulfide bonds
PMID: 32056106
6
Mutant SOD1 localizes to motor neuron nuclei and associates with NADPH oxidase activation, superoxide production, and DNA damage
PMID: 39201793
7
Oxidized SOD1 from ALS mutations impairs mitochondrial-derived vesicles and drives cellular senescence
PMID: 38056310
8
SOD1 aggregates detected in both familial SOD1-ALS and sporadic ALS tissues via RT-QuIC assay
PMID: 38884646
9
Tofersen therapy targeting SOD1 utilized in majority of SOD1-ALS patients identified through genetic screening
PMID: 39268612
Disease Associationsβ“˜22
amyotrophic lateral sclerosisOpen Targets
0.87Strong
familial amyotrophic lateral sclerosisOpen Targets
0.74Strong
sporadic amyotrophic lateral sclerosisOpen Targets
0.73Strong
spastic tetraplegia and axial hypotonia, progressiveOpen Targets
0.61Moderate
motor neuron diseaseOpen Targets
0.59Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
frontotemporal dementia with motor neuron diseaseOpen Targets
0.35Weak
Limb muscle weaknessOpen Targets
0.34Weak
Atrophy/Degeneration affecting the central nervous systemOpen Targets
0.32Weak
Abnormal central motor functionOpen Targets
0.27Weak
skull disorderOpen Targets
0.26Weak
alcohol drinkingOpen Targets
0.25Weak
tonsillitisOpen Targets
0.24Weak
cervical carcinomaOpen Targets
0.23Weak
Abruptio PlacentaeOpen Targets
0.21Weak
diabetes mellitusOpen Targets
0.18Weak
genetic disorderOpen Targets
0.15Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
Parkinson diseaseOpen Targets
0.10Weak
Amyotrophic lateral sclerosis 1UniProt
Spastic tetraplegia and axial hypotonia, progressiveUniProt
Pathogenic Variants130
NM_000454.5(SOD1):c.14C>T (p.Ala5Val)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|SOD1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 5
NM_000454.5(SOD1):c.443G>C (p.Gly148Ala)Likely pathogenic
not provided|Amyotrophic lateral sclerosis type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 148
NM_000454.5(SOD1):c.358G>C (p.Val120Leu)Pathogenic
Amyotrophic lateral sclerosis type 1|See cases|SOD1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 120
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)Pathogenic
not provided|Amyotrophic lateral sclerosis type 1|SOD1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 145
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Motor neuron disease|SOD1-related disorder|Spastic tetraplegia and axial hypotonia, progressive
β˜…β˜…β˜†β˜†2025β†’ Residue 114
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|SOD1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 150
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 87
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp)Pathogenic
Amyotrophic lateral sclerosis type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 42
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|SOD1-related disorder|Limb muscle weakness
β˜…β˜…β˜†β˜†2025β†’ Residue 145
NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)Pathogenic
Amyotrophic lateral sclerosis type 1|Motor neuron disease|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 38
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe)Pathogenic
Amyotrophic lateral sclerosis type 1|Spastic tetraplegia and axial hypotonia, progressive;Amyotrophic lateral sclerosis type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 85
NM_000454.5(SOD1):c.140A>G (p.His47Arg)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis|SOD1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 47
NM_000454.5(SOD1):c.374A>T (p.Asp125Val)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 125
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 134
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp)Pathogenic
Amyotrophic lateral sclerosis type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 94
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis
β˜…β˜…β˜†β˜†2025β†’ Residue 101
NM_000454.5(SOD1):c.230A>T (p.Asp77Val)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 77
NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 5
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu)Pathogenic
Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_000454.5(SOD1):c.131A>G (p.His44Arg)Pathogenic
Amyotrophic lateral sclerosis type 1|not provided|Amyotrophic lateral sclerosis type 10|SOD1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 44
View on ClinVar β†—
Drug Targets1
TOFERSENApproved
SOD1 mRNA antisense inhibitor
amyotrophic lateral sclerosis
Related Genes
PSMD2Protein interaction100%CCSProtein interaction100%VDAC1Protein interaction100%SMN2Protein interaction99%TXNProtein interaction99%NEFHProtein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
35%
Heart
35%
Ovary
23%
Bone Marrow
15%
Lung
12%
Gene Interaction Network
Click a node to explore
SOD1PSMD2CCSVDAC1SMN2TXNNEFH
PROTEIN STRUCTURE
Preparing viewer…
PDB4A7U Β· 0.98 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.51LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.78 [0.42–1.51]
RankingsWhere SOD1 stands among ~20K protein-coding genes
  • #104of 20,598
    Most Researched1,328 Β· top 1%
  • #715of 1,025
    FDA-Approved Drug Targets1
  • #595of 5,498
    Most Pathogenic Variants130 Β· top quartile
  • #15,239of 17,882
    Most Constrained (LOEUF)1.51
Genes detectedSOD1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Antisense oligonucleotides extend survival and reverse decrement in muscle response in ALS models.
PMID: 30010620
J Clin Invest Β· 2018
1.00
2
ALS-linked SOD1 mutations impair mitochondrial-derived vesicle formation and accelerate aging.
PMID: 38056310
Redox Biol Β· 2024
0.90
3
Structures of mouse SOD1 and human/mouse SOD1 chimeras.
PMID: 20727846
Arch Biochem Biophys Β· 2010
0.90
4
Formation of advanced glycation end-product-modified superoxide dismutase-1 (SOD1) is one of the mechanisms responsible for inclusions common to familial amyotrophic lateral sclerosis patients with SOD1 gene mutation, and transgenic mice expressing human SOD1 gene mutation.
PMID: 11304045
Neuropathology Β· 2001
0.86
5
Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene.
PMID: 37626868
Cells Β· 2023
0.84