AlphaFold predicted structure
SOD1 · P00441
Mean pLDDT
97.9/ 100
Very high
154 residues
Confidence breakdown
- Very high(≥ 90)98%
- Confident(70–90)2%
- Low(50–70)0%
- Very low(< 50)0%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SOD1
Chr 21q22.11superoxide dismutase 1
- Aliases:
- IPOA
- MANE:
- ENST00000270142.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset neurodegenerative disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalAmyotrophic lateral sclerosis/motor neuron disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMonogenic hearing loss
Disease associations (Open Targets)
amyotrophic lateral sclerosis
0.88spastic tetraplegia and axial hypotonia, progressive
0.69motor neuron disorder
0.59neurodegenerative disease
0.55familial amyotrophic lateral sclerosis
0.50sporadic amyotrophic lateral sclerosis
0.50frontotemporal dementia with motor neuron disease
0.36Limb muscle weakness
0.34Atrophy/Degeneration affecting the central nervous system
0.31skull disorder
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Superoxide dismutase [Cu-Zn]
Destroys radicals which are normally produced within the cells and which are toxic to biological systems (PubMed:18948262, 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)
Diseases associated with SOD1
Curated MONDO disease pages that list SOD1 among their top associated genes.