KIAA0319

KIAA0319 is a is_associated_with::protein which in humans is encoded by the KIAA0319 is_associated_with::gene.

Clinical significance
Variants of the KIAA0319 gene have been associated with developmental is_associated_with::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 is_associated_with::Specific Language Impairment.

Function


The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore KIAA0319 follows a is_associated_with::clathrin-mediated endocytic pathway