SOD1
Homo sapiens
Gene Name: superoxide dismutase 1
Aliases: ALS, ALS1, HEL-S-44, IPOA, SOD, hSod1, homodimer
Chromosome No: 21
Chromosome Band: 21q22.11
Genetic Category: Functional-Genetic association-Rare single gene variant
Aliases: ALS, ALS1, HEL-S-44, IPOA, SOD, hSod1, homodimer
Chromosome No: 21
Chromosome Band: 21q22.11
Genetic Category: Functional-Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two rare SNPs located in noncoding, potentially regulatory regions of the SOD1 gene were identifed that associated with ASD in a Slovenian case-cohort analysis (Kovac et al., 2013).
Molecular Function
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. Defects in this gene are associated with amyotrophic lateral sclerosis 1 (ALS1) [MIM:105400].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder.
ASD
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
A novel function for fragile X mental retardation protein in translational activation.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN604R001
missense_variant
ENSG00000142168:ENST00000389995:exon4:c.G224C:p.G75A,ENSG00000142168:ENST00000270142:exon4:c.G281C:p
De novo
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN604C001
intron_variant
rs2234694
c.239+34A>C
134 ASD cases, 350 controls (Slovenian ethnicity)
Discovery
GEN604C002
2KB_upstream_variant
rs36233090
c.-1808C>G
134 ASD cases, 350 controls (Slovenian ethnicity)
Discovery
