DIAPH3

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

Other Resources

• More information about the gene http://www.ncbi.nlm.nih.gov/gene

• Site which gives genomic, transcriptomic, genetic, proteomic, functional and disease related information about human genes. http://www.genecards.org/

Genetics

Main Page

References

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