PON1
Homo sapiens
Gene Name: paraoxonase 1
Aliases: ESA, PON
Chromosome No: 7
Chromosome Band: 7q21.3
Genetic Category: Genetic Association
Aliases: ESA, PON
Chromosome No: 7
Chromosome Band: 7q21.3
Genetic Category: Genetic Association
Summary Statistics:
ASD Reports: 5
Recent Reports: 3
Annotated variants: 2
Associated CNVs: 4
Evidence score: null
ASD Reports: 5
Recent Reports: 3
Annotated variants: 2
Associated CNVs: 4
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the PON1 gene and autism in the Caucasian-American population (D'Amelio et al., 2005).
Molecular Function
The encoded protein hydrolyzes a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Paraoxonase gene variants are associated with autism in North America, but not in Italy: possible regional specificity in gene-environment interact...
ASD
Highly Cited
Human serum paraoxonases (PON1) Q and R selectively decrease lipid peroxides in human coronary and carotid atherosclerotic lesions: PON1 esterase a...
Recent Recommendation
High levels of homocysteine and low serum paraoxonase 1 arylesterase activity in children with autism.
Recent Recommendation
Decreased serum arylesterase activity in autism spectrum disorders.
Recent Recommendation
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN199C001
missense_variant
rs662
c.575A>G
p.Gln192Arg
Caucasian-American
Discovery
GEN199C002
missense_variant
rs854560
c.163T>C
p.Leu55Met
Caucasian-American
Discovery
