SOD1

Superoxide dismutase [Cu-Zn] UniProt accession P00441

Destroys radicals which are normally produced within the cells and which are toxic to biological systems (PubMed:24140062). Catalyzes the oxidation of hydrogen sulfide (H2S) to sulfate, playing an important role in detoxifying H2S and limiting the accumulation of reactive sulfur species (RSS) such as persulfides and polysulfides (PubMed:36630448)

Source: UniProt

Homodimer; non-disulfide-linked (By similarity). Homodimerization may take place via the ditryptophan cross-link at Trp-33. Heterodimer with SOD1 (PubMed:31292775).

The heterodimer CCS:SOD1 interacts with SLC31A1; this heterotrimer is Cu(1+)-mediated and its maintenance is regulated through SOD1 activation (PubMed:31292775). Interacts with DAOA; the interaction is direct (PubMed:30037290)

Source: UniProt
Cytoplasm, Nucleus
Source: UniProt
  • Amyotrophic lateral sclerosis 1 (ALS1)

    A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates.

    The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

  • Spastic tetraplegia and axial hypotonia, progressive (STAHP)

    An autosomal recessive, neurologic disorder characterized by loss of motor abilities in the first year of life, after which severe, progressive spastic tetraparesis develops. Affected individuals have severe axial hypotonia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected.

Source: UniProt
  • Platelet degranulation
  • Detoxification of Reactive Oxygen Species
  • Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Source: Reactome via UniProt

Mutations

No mutation information available.

Synthetic Lethal Network

Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to SOD1, aggregated across our SSL data sources. Click any partner node to view that gene’s page.

Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.

BioGRID SLOrth SynLethDB MexDrugs Multi-source
Sources: BioGRID, SLOrth, SynLethDB, MexDrugs

Clinical Trials

Total Trials Found: 30

NCT ID Condition Brief Title Phase Status
NCT05725759 Amyotrophic Lateral Sclerosis, Lou Gehrig Disease, Familial Amyotrophic Lateral Sclerosis, Motor Neuron Disease, Motor Neuron Disease, Familial Rehabilitation in SOD1 ALS Treated With Tofersen N/A UNKNOWN
NCT01041222 Familial Amyotrophic Lateral Sclerosis Safety, Tolerability, and Activity Study of ISIS SOD1Rx to Treat Familial Amyotrophic Lateral Sclerosis (ALS) Caused by SOD1 Gene Mutations PHASE1 COMPLETED
NCT07223723 Amyotrophic Lateral Sclerosis A Study to Learn More About the Long-Term Safety of Tofersen (Qalsody) in Chinese Participants With SOD-1 Amyotrophic Lateral Sclerosis (ALS) PHASE4 RECRUITING
NCT07259980 Amyotrophic Lateral Sclerosis A Study to Learn More About the Long-Term Safety of Tofersen (Qalsody) in Participants With Superoxide Dismutase 1 (SOD-1) Amyotrophic Lateral Sclerosis (ALS) N/A RECRUITING
NCT03535675 Adenocarcinoma of the Prostate Muscadine Plus (MPX) In Men With Prostate Cancer PHASE3 TERMINATED
NCT06100276 Amyotrophic Lateral Sclerosis Safety, Tolerability, and Exploratory Efficacy Study of Intrathecally Administered Gene Therapy AMT-162 in Adult Participants With SOD1 Amyotrophic Lateral Sclerosis (SOD1-ALS) PHASE1, PHASE2 ACTIVE_NOT_RECRUITING
NCT04819555 Amyotrophic Lateral Sclerosis Frequency of SOD1 and C9orf72 Gene Mutations in French ALS N/A COMPLETED
NCT04856982 Amyotrophic Lateral Sclerosis Associated With a SOD1 Gene Mutation A Study of BIIB067 (Tofersen) Initiated in Clinically Presymptomatic Adults With a Confirmed Superoxide Dismutase 1 Mutation PHASE3 ACTIVE_NOT_RECRUITING
NCT04972487 Superoxide Dismutase 1-Amyotropic Lateral Sclerosis Expanded Access Program for Tofersen in Participants With Superoxide Dismutase 1-Amyotropic Lateral Sclerosis N/A APPROVED_FOR_MARKETING
NCT01459302 Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, PLS, Motor Neuron Disease, Lou Gehrigs Disease, Familial Disease, Amyotrophic Lateral Sclerosis, Sporadic, Muscular Dystrophy, Miyoshi Myopathy, Amyotrophic Lateral Sclerosis With Dementia Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders N/A WITHDRAWN