Dyslexia-associated protein

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KIAA0319
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKIAA0319, DYLX2, DYX2, NMIG, AAVR
External IDsMGI: 3036268 HomoloGene: 8878 GeneCards: KIAA0319
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for KIAA0319
Genomic location for KIAA0319
Band6p22.3Start24,544,104 bp[1]
End24,646,155 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081051

RefSeq (protein)

NP_001074520

Location (UCSC)Chr 6: 24.54 – 24.65 MbChr 13: 24.85 – 24.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.[5][6]

Clinical significance[edit]

Variants of the KIAA0319 gene have been associated with developmental dyslexia.[7]

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]

A mutation in a gene on chromosome 6, called the KIAA0319 gene, appears to play a key role in Specific Language Impairment.[8][9]

Function[edit]

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[10]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137261 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006711 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ a b "Entrez Gene: KIAA0319 KIAA0319".
  6. ^ Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID 9205841.
  7. ^ Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J (April 2005). "Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia". American Journal of Human Genetics. 76 (4): 581–91. doi:10.1086/429131. PMC 1199296. PMID 15717286.
  8. ^ Rice ML, Smith SD, Gayán J (December 2009). "Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment". Journal of Neurodevelopmental Disorders. 1 (4): 264–82. doi:10.1007/s11689-009-9031-x. PMC 2788915. PMID 19997522.
  9. ^ Gibson CJ, Gruen JR (2008). "The human lexinome: genes of language and reading". Journal of Communication Disorders. 41 (5): 409–20. doi:10.1016/j.jcomdis.2008.03.003. PMC 2488410. PMID 18466916.
  10. ^ Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP (July 2009). "The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway". American Journal of Physiology. Cell Physiology. 297 (1): C160–8. doi:10.1152/ajpcell.00630.2008. PMC 2711651. PMID 19419997.

Further reading[edit]

External links[edit]