KIAA0319
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). 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]
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]
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.[4]
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[5]
References
- ↑ 1.0 1.1 Lua error in package.lua at line 80: module 'strict' not found.
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- ↑ https://www.nidcd.nih.gov/health/voice/pages/specific-language-impairment.aspx
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
Further reading
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External links
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