SOD1

Gene Information
 
Gene Symbol
SOD1
 
Aliases
ALS, ALS1, HEL-S-44, IPOA, SOD, hSod1, homodimer
 
Entrez Gene ID
 
Gene Name
Superoxide dismutase 1, soluble
 
Chromosomal Location
21q22.11
 
HGNC ID
 
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. 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 ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000303 Biological process Response to superoxide IDA 16790527
GO:0001819 Biological process Positive regulation of cytokine production IDA 15544046
GO:0001890 Biological process Placenta development NAS 12485882
GO:0007566 Biological process Embryo implantation NAS 10920331
GO:0007569 Biological process Cell aging IMP 12871978
Protein Information
 
Protein Name
Cu/Zn superoxide dismutase, SOD, soluble, epididymis secretory protein Li 44, indophenoloxidase A, superoxide dismutase, cystolic
 
Function
Destroys radicals which are normally produced within the cells and which are toxic to biological systems
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00080 Sod_Cu Copper/zinc superoxide dismutase (SODC)
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Cardiovascular diseases 11522279
Endothelial dysfunction 19308750
   
References
 
Primary:

Oxidative stress but not endothelial dysfunction exists in non-obese, young group of patients with polycystic ovary syndrome.

Kuscu Naci Kemal, Var Ahmet
Department of Obstetrics & Gynecology, School of Medicine, Celal Bayar University, Manisa, Turkey. kemal.kuscu@bayar.edu.tr
Acta Obstet Gynecol Scand. 2009;88(5):612-7.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
MDA 
Oxidative stress and endothelial dysfunction 
 
 
Related 
Turkey- 31 young, non-obese patients with PCOS and 23 controls 
Oxidative stress is prominent while endothelial dysfunction does not exist in young, non-obese patients with PCOS. 
MDA,GSH,Glutathione peroxidase (GSH-Px) 
Cardiovascular disease 
 
 
Related 
 
These findings suggest that increased oxidative stress may contribute to the increased risk of cardiovascular disease in women with PCOS. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24526356, PMC3969459
Superoxide dismutase in polycystic ovary syndrome patients undergoing intracytoplasmic sperm injection. 
Clinical study 

 

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