KIAA0319

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KIAA0319
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KIAA0319, DYLX2, DYX2, NMIG
External IDs MGI: 3036268 HomoloGene: 8878 GeneCards: KIAA0319
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001081051

RefSeq (protein)

NP_001074520

Location (UCSC) Chr 6: 24.54 – 24.65 Mb Chr 13: 24.85 – 24.9 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.[3][4]

Clinical significance[edit]

Variants of the KIAA0319 gene have been associated with developmental dyslexia.[5]

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%.[3]

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.[6]

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[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: KIAA0319 KIAA0319". 
  4. ^ 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 the brain which can code for large proteins in vitro". DNA Res. 4 (2): 141–50. PMID 9205841. doi:10.1093/dnares/4.2.141. 
  5. ^ 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". Am. J. Hum. Genet. 76 (4): 581–91. PMC 1199296Freely accessible. PMID 15717286. doi:10.1086/429131. 
  6. ^ https://www.nidcd.nih.gov/health/voice/pages/specific-language-impairment.aspx
  7. ^ 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". Am. J. Physiol., Cell Physiol. 297 (1): C160–8. PMC 2711651Freely accessible. PMID 19419997. doi:10.1152/ajpcell.00630.2008. 

Further reading[edit]

External links[edit]