IFT80
MIM.611177 3q24-q26
The IFT80 gene encodes a protein with 7 WD40 domains that is a component of the intraflagellar transport (IFT) complex B. The IFT is essential for the development and maintenance of motile and sensory cilia.
Pathology
germline mutation in Jeune syndrome (asphyxiating thoracic dystrophy locus ATD2) (MIM.611263)
References
Beales, P. L.; Bland, E.; Tobin, J. L.; Bacchelli, C.; Tuysuz, B.; Hill, J.; Rix, S.; Pearson, C. H.; Kai, M.; Hartley, J.; Johnson, C.; Irving, M.; Elcioglu, N.; Winey, M.; Tada, M.; Scambler, P. J. : IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genet. 39: 727-729, 2007. PubMed ID : #17468754#