SOD1 superoxide dismutase 1
Gene ID: 6647, updated on 12-Nov-2024Gene type: protein coding
Also known as: ALS; SOD; ALS1; IPOA; STAHP; hSod1; HEL-S-44; homodimer
- See all available tests in GTR for this gene
- Go to complete Gene record for SOD1
- Go to Variation Viewer for SOD1 variants
Summary
The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Amyotrophic lateral sclerosis type 1 | not available |
| Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. GeneReviews: Not available | |
| Spastic tetraplegia and axial hypotonia, progressive | not available |
Genomic context
- Location:
- 21q22.11
- Sequence:
- Chromosome: 21; NC_000021.9 (31659693..31668931)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SOD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/SOD1 genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SOD1 database
- Variation ViewerRelated Variants
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