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Aliases for SOD1 Gene

Aliases for SOD1 Gene

  • Superoxide Dismutase 1 2 3 4 5
  • Superoxide Dismutase 1, Soluble 2 3
  • HSod1 3 4
  • Amyotrophic Lateral Sclerosis 1 (Adult) 2
  • Epididymis Secretory Protein Li 44 3
  • Superoxide Dismutase, Cystolic 3
  • Superoxide Dismutase [Cu-Zn] 3
  • Cu/Zn Superoxide Dismutase 3
  • Indophenoloxidase A 3
  • SOD, Soluble 3
  • EC 4
  • Homodimer 3
  • HEL-S-44 3
  • IPOA 3
  • ALS1 3
  • SOD 3
  • ALS 3

External Ids for SOD1 Gene

Previous HGNC Symbols for SOD1 Gene

  • ALS
  • ALS1

Previous GeneCards Identifiers for SOD1 Gene

  • GC21P029609
  • GC21P031952
  • GC21P031953
  • GC21P033031
  • GC21P018441

Summaries for SOD1 Gene

Entrez Gene Summary for SOD1 Gene

  • 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. 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 2008]

GeneCards Summary for SOD1 Gene

SOD1 (Superoxide Dismutase 1) is a Protein Coding gene. Diseases associated with SOD1 include Amyotrophic Lateral Sclerosis 1 and Motor Neuron Disease. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Dopamine metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is CCS.

UniProtKB/Swiss-Prot for SOD1 Gene

  • Destroys radicals which are normally produced within the cells and which are toxic to biological systems.

Gene Wiki entry for SOD1 Gene

Additional gene information for SOD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOD1 Gene

Genomics for SOD1 Gene

GeneHancer (GH) Regulatory Elements for SOD1 Gene

Promoters and enhancers for SOD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J031658 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 655.5 +0.2 199 2.9 HDGF FOXA2 PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SOD1 LOC102724449 SCAF4 MIS18A CFAP298 ENSG00000238390 MIS18A-AS1 URB1
GH21J031659 Enhancer 0.8 ENCODE 650.7 -1.4 -1399 0.2 ELF3 FOXA2 RAD21 RARA YY1 EGR1 RXRA SP5 ELF1 REST LOC102724449 SOD1 GC21P031631
GH21J031173 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -485.2 -485223 2.2 MAX ZIC2 ZFHX2 RCOR1 ZNF600 CHD2 EGR2 ZNF189 L3MBTL2 CBFA2T3 LOC102724449 SOD1 ENSG00000238390 TIAM1 LOC150051 GC21P031202 GC21M031017
GH21J031629 Enhancer 0.8 ENCODE 16.8 -29.5 -29512 1.3 NFIB YY1 ZNF335 ZNF366 ZNF350 RCOR1 FOS ZNF174 RXRA ZNF518A FBXW11P1 GC21P031631 SOD1 LOC102724449 ENSG00000238390 LOC150051 TIAM1 SCAF4
GH21J031714 Enhancer 1.1 Ensembl ENCODE 11.9 +55.3 55332 1.5 HDGF HDAC1 PKNOX1 ARNT BATF TCF12 ZSCAN5C CREM ZNF174 JUNB ENSG00000238390 LOC102724449 SOD1 HMGN1P2 GC21P031707 SCAF4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOD1 gene promoter:
  • MyoD
  • MEF-2A
  • aMEF-2
  • C/EBPalpha
  • RSRFC4
  • CUTL1
  • HFH-1
  • Pax-4a
  • p53

Genomic Locations for SOD1 Gene

Genomic Locations for SOD1 Gene
9,310 bases
Plus strand
9,310 bases
Plus strand

Genomic View for SOD1 Gene

Genes around SOD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOD1 Gene

Proteins for SOD1 Gene

  • Protein details for SOD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Superoxide dismutase [Cu-Zn]
    Protein Accession:
    Secondary Accessions:
    • A6NHJ0
    • D3DSE4
    • Q16669
    • Q16711
    • Q16838
    • Q16839
    • Q16840
    • Q6NR85

    Protein attributes for SOD1 Gene

    154 amino acids
    Molecular mass:
    15936 Da
    Name=Cu cation; Xref=ChEBI:CHEBI:23378;
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; non-disulfide linked. Homodimerization may take place via the ditryptophan cross-link at Trp-33. The pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 interact with RNF19A, whereas wild-type protein does not. The pathogenic variants ALS1 Arg-86 and Ala-94 interact with MARCH5, whereas wild-type protein does not.
    • The protein (both wild-type and ALS1 variants) has a tendency to form fibrillar aggregates in the absence of the intramolecular disulfide bond or of bound zinc ions. These aggregates may have cytotoxic effects. Zinc binding promotes dimerization and stabilizes the native form.

    Three dimensional structures from OCA and Proteopedia for SOD1 Gene

neXtProt entry for SOD1 Gene

Post-translational modifications for SOD1 Gene

  • Unlike wild-type protein, the pathogenic variants ALS1 Arg-38, Arg-47, Arg-86 and Ala-94 are polyubiquitinated by RNF19A leading to their proteasomal degradation. The pathogenic variants ALS1 Arg-86 and Ala-94 are ubiquitinated by MARCH5 leading to their proteasomal degradation.
  • The ditryptophan cross-link at Trp-33 is responsible for the non-disulfide-linked homodimerization. Such modification might only occur in extreme conditions and additional experimental evidence is required.
  • Palmitoylation helps nuclear targeting and decreases catalytic activity.
  • Succinylation, adjacent to copper catalytic site, probably inhibits activity. Desuccinylation by SIRT5 enhances activity.
  • Ubiquitination at posLast=123123 and posLast=3131
  • Modification sites at PhosphoSitePlus

Other Protein References for SOD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SOD1 (SOD1/Cu-Zn SOD)

No data available for DME Specific Peptides for SOD1 Gene

Domains & Families for SOD1 Gene

Gene Families for SOD1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SOD1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Cu-Zn superoxide dismutase family.
  • Belongs to the Cu-Zn superoxide dismutase family.
genes like me logo Genes that share domains with SOD1: view

Function for SOD1 Gene

Molecular function for SOD1 Gene

UniProtKB/Swiss-Prot Function:
Destroys radicals which are normally produced within the cells and which are toxic to biological systems.
UniProtKB/Swiss-Prot CatalyticActivity:
2 superoxide + 2 H(+) = O(2) + H(2)O(2).
GENATLAS Biochemistry:
copper/zinc superoxide dismutase 1,soluble,catabolic pathway of activated oxygen species,free radical detoxification,involved in the function of motor neuron,regulated by SP1,EGR1 and WT1

Enzyme Numbers (IUBMB) for SOD1 Gene

Phenotypes From GWAS Catalog for SOD1 Gene

Gene Ontology (GO) - Molecular Function for SOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004784 superoxide dismutase activity TAS,IEA --
GO:0005507 copper ion binding IEA,IDA 17008312
GO:0005515 protein binding IPI 16369483
GO:0008270 zinc ion binding IDA 17381088
GO:0016209 antioxidant activity IEA --
genes like me logo Genes that share ontologies with SOD1: view
genes like me logo Genes that share phenotypes with SOD1: view

Human Phenotype Ontology for SOD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOD1 Gene

MGI Knock Outs for SOD1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SOD1

CRISPR Products

miRNA for SOD1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOD1

No data available for Transcription Factor Targets and HOMER Transcription for SOD1 Gene

Localization for SOD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOD1 Gene

Cytoplasm. Mitochondrion. Nucleus. Note=Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria. {ECO:0000269 PubMed:19741096}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOD1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
peroxisome 5
nucleus 5
cytosol 5
lysosome 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IDA,IEA 7172448
GO:0005634 nucleus IDA,IEA 1332049
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 1332049
genes like me logo Genes that share ontologies with SOD1: view

Pathways & Interactions for SOD1 Gene

genes like me logo Genes that share pathways with SOD1: view

Gene Ontology (GO) - Biological Process for SOD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity ISS --
GO:0000302 response to reactive oxygen species IEA --
GO:0000303 response to superoxide IDA 16790527
GO:0001541 ovarian follicle development ISS,IEA --
GO:0001819 positive regulation of cytokine production IDA 15544046
genes like me logo Genes that share ontologies with SOD1: view

No data available for SIGNOR curated interactions for SOD1 Gene

Drugs & Compounds for SOD1 Gene

(81) Drugs for SOD1 Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Enzyme, cofactor 202
Zinc Approved, Investigational Pharma Target, Enzyme 2430
Vitamin E Approved, Vet_approved Nutra Enzyme, inducer 434,438
Oxygen Approved, Vet_approved Pharma 0
Manganese Approved Nutra 37

(87) Additional Compounds for SOD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (O2)(.-)
  • Dioxide(1-)
  • Hyperoxid
  • Hyperoxide
  • O2(.-)
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with SOD1: view

Transcripts for SOD1 Gene

mRNA/cDNA for SOD1 Gene

(1) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(1124) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOD1 Gene

Superoxide dismutase 1, soluble:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOD1

Alternative Splicing Database (ASD) splice patterns (SP) for SOD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5: - - - - -
SP6: - - - - -
SP8: - -

Relevant External Links for SOD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SOD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOD1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SOD1 Gene

Protein tissue co-expression partners for SOD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOD1 Gene:


SOURCE GeneReport for Unigene cluster for SOD1 Gene:


Evidence on tissue expression from TISSUES for SOD1 Gene

  • Nervous system(4.9)
  • Liver(4.8)
  • Intestine(4.6)
  • Lung(4.4)
  • Pancreas(4.4)
  • Eye(4.2)
  • Skin(4)
  • Muscle(3.5)
  • Heart(3.3)
  • Kidney(3.2)
  • Blood(3)
  • Adrenal gland(2.7)
  • Spleen(2.6)
  • Thyroid gland(2.3)
  • Bone marrow(2.1)
  • Gall bladder(2.1)
  • Bone(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
  • biliary tract
  • liver
  • stomach
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SOD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SOD1 Gene

Orthologs for SOD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SOD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SOD1 34 33
  • 99.78 (n)
(Canis familiaris)
Mammalia SOD1 34 33
  • 86.49 (n)
(Bos Taurus)
Mammalia SOD1 34 33
  • 85.31 (n)
-- 34
  • 83 (a)
(Rattus norvegicus)
Mammalia Sod1 33
  • 84.42 (n)
(Mus musculus)
Mammalia Sod1 16 34 33
  • 83.77 (n)
(Monodelphis domestica)
Mammalia SOD1 34
  • 80 (a)
(Gallus gallus)
Aves SOD1 34 33
  • 75.66 (n)
(Anolis carolinensis)
Reptilia SOD1 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sod1 33
  • 66.44 (n)
Str.1999 33
African clawed frog
(Xenopus laevis)
Amphibia sod1-A-prov 33
(Danio rerio)
Actinopterygii sod1 34 33 33
  • 67.97 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9641 33
African malaria mosquito
(Anopheles gambiae)
Insecta CUSOD3 33
  • 59.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sod 34 35 33
  • 55.84 (n)
CG9027 35
  • 55 (a)
(Caenorhabditis elegans)
Secernentea sod-1 35 33
  • 55.26 (n)
ZK430.3 35
  • 54 (a)
sod-4 34 35
  • 33 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SOD1 36 34 33
  • 57.05 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05567g 33
  • 54.44 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL321W 33
  • 54.08 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CSD1 33
  • 56.31 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3600 33
(Oryza sativa)
Liliopsida Os07g0665200 33
  • 59.46 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sod1 33
  • 55.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5360 34
  • 54 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02133 33
  • 52.98 (n)
Species where no ortholog for SOD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOD1 Gene

Gene Tree for SOD1 (if available)
Gene Tree for SOD1 (if available)
Evolutionary constrained regions (ECRs) for SOD1: view image

Paralogs for SOD1 Gene

Paralogs for SOD1 Gene

(2) SIMAP similar genes for SOD1 Gene using alignment to 4 proteins:

  • L8E9E6_HUMAN Pseudogenes for SOD1 Gene

genes like me logo Genes that share paralogs with SOD1: view

Variants for SOD1 Gene

Sequence variations from dbSNP and Humsavar for SOD1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs11556620 likely-pathogenic, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] 31,667,278(+) A/G coding_sequence_variant, missense_variant
rs121912431 pathogenic, Amyotrophic lateral sclerosis type 1, Motor neuron disease, Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] 31,663,829(+) G/A coding_sequence_variant, missense_variant
rs121912432 pathogenic, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] 31,663,832(+) C/G coding_sequence_variant, missense_variant
rs121912433 pathogenic, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] 31,663,841(+) G/A coding_sequence_variant, missense_variant
rs121912434 pathogenic, Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400] 31,663,842(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SOD1 Gene

Variant ID Type Subtype PubMed ID
esv3575385 CNV gain 25503493
nsv1067151 CNV gain 25217958
nsv519899 CNV gain 19592680
nsv834079 CNV loss 17160897

Variation tolerance for SOD1 Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOD1 Gene

Disorders for SOD1 Gene

MalaCards: The human disease database

(56) MalaCards diseases for SOD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • als1
motor neuron disease
  • motor neuron diseases
lateral sclerosis
  • motor neuron disease
eales disease
  • idiopathic obliterative vasculopathy
mild pre-eclampsia
  • mild toxemia
- elite association - COSMIC cancer census association via MalaCards
Search SOD1 in MalaCards View complete list of genes associated with diseases


  • Amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400]: 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. {ECO:0000269 PubMed:10400992, ECO:0000269 PubMed:10430435, ECO:0000269 PubMed:10732812, ECO:0000269 PubMed:11369193, ECO:0000269 PubMed:11535232, ECO:0000269 PubMed:12145308, ECO:0000269 PubMed:12402272, ECO:0000269 PubMed:12754496, ECO:0000269 PubMed:12963370, ECO:0000269 PubMed:14506936, ECO:0000269 PubMed:15056757, ECO:0000269 PubMed:18301754, ECO:0000269 PubMed:18378676, ECO:0000269 PubMed:18552350, ECO:0000269 PubMed:19741096, ECO:0000269 PubMed:21220647, ECO:0000269 PubMed:21247266, ECO:0000269 PubMed:27604643, ECO:0000269 PubMed:7496169, ECO:0000269 PubMed:7501156, ECO:0000269 PubMed:7647793, ECO:0000269 PubMed:7655468, ECO:0000269 PubMed:7655469, ECO:0000269 PubMed:7655471, ECO:0000269 PubMed:7700376, ECO:0000269 PubMed:7795609, ECO:0000269 PubMed:7836951, ECO:0000269 PubMed:7870076, ECO:0000269 PubMed:7881433, ECO:0000269 PubMed:7887412, ECO:0000269 PubMed:7951252, ECO:0000269 PubMed:7980516, ECO:0000269 PubMed:7997024, ECO:0000269 PubMed:8069312, ECO:0000269 PubMed:8179602, ECO:0000269 PubMed:8351519, ECO:0000269 PubMed:8446170, ECO:0000269 PubMed:8528216, ECO:0000269 PubMed:8682505, ECO:0000269 PubMed:8907321, ECO:0000269 PubMed:8938700, ECO:0000269 PubMed:8990014, ECO:0000269 PubMed:9101297, ECO:0000269 PubMed:9131652, ECO:0000269 PubMed:9455977, ECO:0000269 PubMed:9541385}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SOD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOD1: view

No data available for Genatlas for SOD1 Gene

Publications for SOD1 Gene

  1. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. (PMID: 8446170) Rosen DR … Deng HX (Nature 1993) 2 3 4 44 58
  2. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. (PMID: 18608106) Luisa Conforti F … Quattrone A (Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2009) 3 22 44 58
  3. Age and founder effect of SOD1 A4V mutation causing ALS. (PMID: 19176896) Saeed M … Siddique T (Neurology 2009) 3 22 44 58
  4. Diffusion tensor imaging in sporadic and familial (D90A SOD1) forms of amyotrophic lateral sclerosis. (PMID: 19139308) Stanton BR … Simmons A (Archives of neurology 2009) 3 22 44 58
  5. DNA sequence analysis of the conserved region around the SOD1 gene locus in recessively inherited ALS. (PMID: 19596401) Broom WJ … Brown RH (Neuroscience letters 2009) 3 22 44 58

Products for SOD1 Gene

  • Addgene plasmids for SOD1

Sources for SOD1 Gene

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