rs11197571
This is a intron variant variant in the GFRA1 gene.
▶Research that mentions this SNP (1)
▶Variants in several genomic regions associated with asperger disorderAssociationN=860Salyakina D. et al.(2010)· Autism Research
Genome-wide association study in 124 families with Asperger disorder (discovery) and 110 families (validation) identified novel susceptibility loci on 5q21.1 (P = 9.7 × 10⁻⁷, rs4703129) and 15q22.1-q22.2 (P = 7.3 × 10⁻⁶, rs4775101) associated with Asperger disorder. The study confirmed three regions previously linked to Asperger disorder in Finnish families (3p14.2, 3q25-26, 3p23) and identified 26 candidate genes, suggesting that Asperger disorder shares both ASD-related genetic risk factors as well as unique genetic risk factors.
About GFRA1
This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
View all GFRA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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