Английская Википедия:Dyslexia-associated protein

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Шаблон:Short description Шаблон:Infobox gene Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.[1][2]

Clinical significance

Variants of the KIAA0319 gene have been associated with developmental dyslexia.[3][4] 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%.[1]

Mutations in the gene also more generally appear to play a key role in specific language impairment (SLI).[5][6]

Function

Файл:KIAA0319 Protein20154-300.jpg
Over-expression of C-terminally myc-tagged KIAA0319 protein in transiently transfected 293T cells, showing plasma membrane localization. Detection with monoclonal anti-myc 9E10.

The KIAA0319 protein is expressed on the cell membrane and may be involved in neuronal migration. Furthermore, KIAA0319 follows a clathrin-mediated endocytic pathway.[7]

References

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Further reading

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External links

Шаблон:KIAA human genes

Шаблон:Gene-6-stub