Gene:
SOD1
superoxide dismutase 1, soluble

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  None
Alternate Symbols:  IPOA
PharmGKB Accession Id: PA334

Details

Cytogenetic Location: chr21 : q22.11 - q22.11
GP mRNA Boundary: chr21 : 33031935 - 33041244
GP Gene Boundary: chr21 : 33021935 - 33044244
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Representation of the candidate genes involved in the action of doxorubicin in a stylized cancer cell.
  1. Doxorubicin Pathway, Pharmacokinetics
    Diagrammatic representation of the transport and metabolism of doxorubicin.
  1. Oxidative Stress Regulatory Pathway (Erythrocyte)
    A simplified diagram to show several of the regulatory mechanisms that prevent oxidative stress in red blood cells, many of which require NADPH from the Pentose Phosphate Pathway.
  1. Platinum Pathway, Pharmacokinetics/Pharmacodynamics
    Representation of the candidate genes involved in the metabolism of platinum containing drugs.

External Pathways

Links to non-PharmGKB pathways.

  1. cardiac protection against ros - (BioCarta via Pathway Interaction Database)
  2. FOXA1 transcription factor network - (Pathway Interaction Database NCI-Nature Curated)
  3. Further platelet releasate - (Reactome via Pathway Interaction Database)
  4. the igf-1 receptor and longevity - (BioCarta via Pathway Interaction Database)

Publications related to SOD1: 13

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PharmGKB summary: methylene blue pathway. Pharmacogenetics and genomics. 2013. McDonagh Ellen M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics as a risk mitigation strategy for chemotherapeutic cardiotoxicity. Pharmacogenomics. 2013. Jensen Brian C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Doxorubicin pathways: pharmacodynamics and adverse effects. Pharmacogenetics and genomics. 2010. Thorn Caroline F, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science (New York, N.Y.). 2008. Sreedharan Jemeen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Onset and progression in inherited ALS determined by motor neurons and microglia. Science (New York, N.Y.). 2006. Boillée Séverine, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Polymorphism discovery in 51 chemotherapy pathway genes. Human molecular genetics. 2005. Freimuth Robert R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Structural properties and neuronal toxicity of amyotrophic lateral sclerosis-associated Cu/Zn superoxide dismutase 1 aggregates. The Journal of cell biology. 2005. Matsumoto Gen, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Inhibition of chaperone activity is a shared property of several Cu,Zn-superoxide dismutase mutants that cause amyotrophic lateral sclerosis. The Journal of biological chemistry. 2005. Tummala Hemachand, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Estrogen receptor-mediated regulation of oxidative stress and DNA damage in breast cancer. Carcinogenesis. 2004. Mobley James A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood. 2003. Ross Mary E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Oxidative stress caused by inactivation of glutathione peroxidase and adaptive responses. Biological chemistry. 2003. Miyamoto Yasuhide, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Early changes in myocardial antioxidant enzymes in rats treated with adriamycin. Molecular and cellular biochemistry. 2002. Li Timao, et al. PubMed

LinkOuts

Entrez Gene:
6647
OMIM:
105400
147450
UCSC Genome Browser:
NM_000454
RefSeq RNA:
NM_000454
RefSeq Protein:
NP_000445
RefSeq DNA:
AC_000064
AC_000153
NC_000021
NG_008689
NT_011512
NW_001838706
NW_927384
UniProtKB:
SODC_HUMAN (P00441)
Ensembl:
ENSG00000142168
GenAtlas:
SOD1
GeneCard:
SOD1
MutDB:
SOD1
ALFRED:
LO000353L
HuGE:
SOD1
Comparative Toxicogenomics Database:
6647
ModBase:
P00441
HumanCyc Gene:
HS06899
HGNC:
11179

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