Aliases: CANDF5, CD217, CDw217, IL-17RA, IL17R, IMD51, hIL-17R
Chromosome No: 22
Chromosome Band: 22q11.1
Genetic Category: Rare single gene variant-Functional
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
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Relevance to Autism
Removal of one or both copies of the Il17ra gene in mothers was shown in Choi et al. 2016 to be sufficient to rescue social deficits in offspring induced by maternal immune activation (MIA) in mice. Yim et al., 2017 demonstrated that nervous-system-specific abrogation of IL-17Ra in offspring also rescued MIA-induced behavioral abnormalities. A de novo loss-of-function variant in this gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014.
Molecular Function
Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases.
External Links
