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STAHP
Chr 21ARsuperoxide dismutase 1
Also known as: ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer
The encoded protein is a cytoplasmic superoxide dismutase that binds copper and zinc ions to convert harmful superoxide radicals to molecular oxygen and hydrogen peroxide, protecting cells from oxidative damage. Mutations cause progressive spastic tetraplegia and axial hypotonia with autosomal recessive inheritance. This condition primarily affects the motor system with progressive spasticity in all four limbs combined with truncal hypotonia.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/STAHP?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
STAHP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools