GPX1
Homo sapiens
Gene Name: glutathione peroxidase 1
Aliases: GSHPX1; MGC14399; MGC88245; GPX1
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Genetic Association-Rare single gene variant
Aliases: GSHPX1; MGC14399; MGC88245; GPX1
Chromosome No: 3
Chromosome Band: 3p21.31
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
ASD Reports: 6
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Genetic association has been found between the GPX1 gene and autism in a US population cohort (Ming et al., 2010).
Molecular Function
It functions in the detoxification of hydrogen peroxide
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Highly Cited
Mice with a homozygous null mutation for the most abundant glutathione peroxidase, Gpx1, show increased susceptibility to the oxidative stress-indu...
Highly Cited
Targeted mutation of the gene for cellular glutathione peroxidase (Gpx1) increases noise-induced hearing loss in mice.
Recent Recommendation
Cellular glutathione peroxidase in human brain: cellular distribution, and its potential role in the degradation of Lewy bodies in Parkinson's dise...
Recent Recommendation
Glutathione peroxidase 1-deficient mice are more susceptible to doxorubicin-induced cardiotoxicity.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN108R001
frameshift_variant
c.199_200insCG
p.Gly67AlafsTer?
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
