IL17A
Homo sapiens
Gene Name: Interleukin 17A
Aliases: CTLA-8, CTLA8, IL-17, IL-17A, IL17
Chromosome No: 6
Chromosome Band: 6p12.2
Genetic Category: Functional-Rare single gene variant
Aliases: CTLA-8, CTLA8, IL-17, IL-17A, IL17
Chromosome No: 6
Chromosome Band: 6p12.2
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Interleukin-17a was shown to be required for an abnormal cortical phenotype and behavioral abnormalities in offspring induced by maternal immune activation (Choi et al., 2016). Furthermore, administration of IL-17a into fetal brain was shown to promote abnormal cortical development and ASD-like behaviors.
Molecular Function
The protein encoded by this gene is a proinflammatory cytokine produced by activated T cells. This cytokine regulates the activities of NF-kappaB and mitogen-activated protein kinases. This cytokine can stimulate the expression of IL6 and cyclooxygenase-2 (PTGS2/COX-2), as well as enhance the production of nitric oxide (NO).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD