Difference between revisions of "DIAPH3"

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==DIAPH3==
 
==DIAPH3==
  
[[Image:EIF4E pathway.gif|frame|EIF4E pathway PMID ]]
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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 [[Neuroligins/Neurexins/Shank3 | SHANK3]].<sup>1</sup>
  
  
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===Other Resources===
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*More information about the gene http://www.ncbi.nlm.nih.gov/gene
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*Site which gives genomic, transcriptomic, genetic, proteomic, functional and disease related information about human genes. http://www.genecards.org/
  
  
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====References====
 
====References====
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1. Vorstman JA et. al. A double hit implicates DIAPH3 as an autism risk gene.Mol Psychiatry. 2010 Mar 23. PMID 20308993

Latest revision as of 14:28, 24 March 2010

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

  • 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