rs2494876
This is a splice region variant variant in the ELAVL4 gene.
▶Research that mentions this SNP (1)
▶ELAVL4, PARK10, and the CeltsAssociationN=1,563Kristoffer Haugarvoll et al.(2007)· Movement Disorders
This association study examined ELAVL4 gene polymorphisms in Norwegian, US, and Irish Parkinson's disease (PD) case-control samples to replicate previous findings of ELAVL4 association with age-at-onset in PD. While no associations were found in Norwegian or US samples, two ELAVL4 markers (rs967582, OR=1.53, p=0.007; rs3902720, OR=1.55, p=0.006) showed significant allelic association with PD susceptibility in the Irish series. The authors suggest this Irish-specific association may reflect a Celtic-founder effect, rather than a universal PD susceptibility locus.
About ELAVL4
Enables mRNA 3'-UTR AU-rich region binding activity; poly(A) binding activity; and pre-mRNA intronic pyrimidine-rich binding activity. Involved in 3'-UTR-mediated mRNA stabilization; RNA processing; and positive regulation of 3'-UTR-mediated mRNA stabilization. Predicted to be located in axon; cytoplasm; and dendrite. Predicted to be part of ribonucleoprotein complex. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Jul 2025]
View all ELAVL4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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