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

Click a pathway to open the interactive Reactome viewer.

Pathway list and interactive viewer: Reactome

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
NCT05974579 Amyotrophic Lateral Sclerosis Safety and Dosimetry of a New Radiotracer to Detect Misfolded SOD1 Associated With Amyotrophic Lateral Sclerosis PHASE1 ACTIVE_NOT_RECRUITING
NCT03449212 Amyotrophic Lateral Sclerosis, Familial, Amyotrophic Lateral Sclerosis, Sporadic SOD1 Kinetics Measurements in ALS Patients N/A SUSPENDED
NCT06556394 Amyotrophic Lateral Sclerosis A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of RAG-17 in Subjects With Amyotrophic Lateral Sclerosis (ALS) With Superoxide Dismutase Type 1 (SOD1) Gene Mutation PHASE1 RECRUITING
NCT03865420 ALS Amyotrophic Lateral Sclerosis (ALS) Families Project N/A RECRUITING
NCT01083667 Familial Amyotrophic Lateral Sclerosis SOD1 Inhibition by Pyrimethamine in Familial Amyotrophic Lateral Sclerosis (ALS) PHASE1, PHASE2 COMPLETED
NCT07077668 ALS (Amyotrophic Lateral Sclerosis) Extended Study of RAG-17 in the Treatment of Amyotrophic Lateral Sclerosis Patients With SOD1 Gene Mutation EARLY_PHASE1 NOT_YET_RECRUITING
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
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
NCT04744532 Amyotrophic Lateral Sclerosis iPSC-based Drug Repurposing for ALS Medicine (iDReAM) Study PHASE1, PHASE2 UNKNOWN
NCT00706147 Amyotrophic Lateral Sclerosis Phase II/III Randomized, Placebo-controlled Trial of Arimoclomol in SOD1 Positive Familial Amyotrophic Lateral Sclerosis PHASE2, PHASE3 COMPLETED