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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

KIAA1279  -  KIAA1279

Homo sapiens

Synonyms: DKFZP586B0923, KBP, KIF1-binding protein, TTC20
 
 
 
 
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Disease relevance of KIAA1279

  • We demonstrate that homozygous nonsense mutations in KIAA1279 at 10q22.1, encoding a protein with two tetratrico peptide repeats, underlie this syndromic form of Hirschsprung disease and generalized polymicrogyria, establishing the importance of KIAA1279 in both enteric and central nervous system development [1].
 

High impact information on KIAA1279

References

  1. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Brooks, A.S., Bertoli-Avella, A.M., Burzynski, G.M., Breedveld, G.J., Osinga, J., Boven, L.G., Hurst, J.A., Mancini, G.M., Lequin, M.H., de Coo, R.F., Matera, I., de Graaff, E., Meijers, C., Willems, P.J., Tibboel, D., Oostra, B.A., Hofstra, R.M. Am. J. Hum. Genet. (2005) [Pubmed]
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