Species Human Entrez 9856 | Human Mouse Ensembl ENSG00000137261 | |
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Aliases KIAA0319, DYLX2, DYX2, NMIG External IDs MGI: 3036268 HomoloGene: 8878 GeneCards: KIAA0319 | ||
KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.
Contents
Clinical significance
Variants of the KIAA0319 gene have been associated with developmental dyslexia.
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%.
An NIDCD-supported investigator recently has identified a mutation in a gene on chromosome 6, called the KIAA0319 gene, that appears to play a key role in Specific Language Impairment.
Function
The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore, KIAA0319 follows a clathrin-mediated endocytic pathway