Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319gene.[5][6]
Clinical significance
Variants of the KIAA0319 gene have been associated with developmental dyslexia.[7][8] Reading disability, or dyslexia, is a major social, educational and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to this disorder, with heritable variation estimated at 50 to 70%.[5]
Mutations in the gene also more generally appear to play a key role in specific language impairment (SLI).[9][10]
The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore, KIAA0319 follows a clathrin-mediated endocytic pathway.[11]
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Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC (October 2007). "A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability". Biological Psychiatry. 62 (7): 811–7. doi:10.1016/j.biopsych.2007.03.007. PMID 17597587. S2CID 11334660.
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