Aliases: HUC, HUCL, PLE21
Chromosome No: 19
Chromosome Band: 19p13.2
Genetic Category: Rare single gene variant-
ASD Reports: 6
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 5
Evidence score: 2
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Relevance to Autism
Two de novo missense variants in the ELAVL3 gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014. Krumm et al., 2015 reported that no de novo SNVs in this gene were observed in SSC unaffected siblings (de novo SNV P-value <0.05), and no rare effect types were reported in the Exome Variant Server.
Molecular Function
A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis.
External Links
