DIAPH3

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DIAPH3

DIAPH3 is a gene that has recently been suggested as a novel susceptibility gene for autism which may have a function in the developing murine cerebral cortex. Murine fibroblasts that have been transfected with a amino acid substitution Pro614Thr at DIAPH3 showed a significant reduction in the number of induced filopodia. DIAPH3 is involved in cell migration, axon guidance and neuritogeneis and has been suggested to work downstream of SHANK3.1







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References

1. Vorstman JA et. al. A double hit implicates DIAPH3 as an autism risk gene.Mol Psychiatry. 2010 Mar 23. PMID 20308993