Difference between revisions of "DIAPH3"

From Pheno Wiki
Jump to: navigation, search
Line 3: Line 3:
 
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.<sup>1</sup>
 
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.<sup>1</sup>
  
 +
 +
===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/]
  
  

Revision as of 14:15, 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

    • More information about the gene [1]
    • Site which gives genomic, transcriptomic, genetic, proteomic, functional and disease related information about human genes.[2]






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