Relevance to Autism

A novel recurrent duplication involving the YWHAE gene was identified in Prasad et al., 2012 in two unrelated ASD cases but not in 5,139 controls (FET two-tailed p=0.01421). Bruno et al., 2010 found that the minimal region of overlap for cases with 17p13.3 microduplication, which includes autism as a phenotype, spans 72 kb and encompasses a single gene, YWHAE. Curry et al., 2013 described 34 additional patients with 17p13.3 duplications from 21 families and found that ASD was observed in a third of duplication probands, most commonly in those with duplications of YWHAE and flanking genes.

Molecular Function

This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity.

External Links

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