Gene Review:
Whrn - whirlin
Mus musculus
Synonyms:
1110035G07Rik, AW122018, AW742671, C430046P22Rik, Dfnb31, ...
- Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Mburu, P., Mustapha, M., Varela, A., Weil, D., El-Amraoui, A., Holme, R.H., Rump, A., Hardisty, R.E., Blanchard, S., Coimbra, R.S., Perfettini, I., Parkinson, N., Mallon, A.M., Glenister, P., Rogers, M.J., Paige, A.J., Moir, L., Clay, J., Rosenthal, A., Liu, X.Z., Blanco, G., Steel, K.P., Petit, C., Brown, S.D. Nat. Genet. (2003)
- Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia. Belyantseva, I.A., Boger, E.T., Naz, S., Frolenkov, G.I., Sellers, J.R., Ahmed, Z.M., Griffith, A.J., Friedman, T.B. Nat. Cell Biol. (2005)
- The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. van Wijk, E., van der Zwaag, B., Peters, T., Zimmermann, U., Te Brinke, H., Kersten, F.F., Märker, T., Aller, E., Hoefsloot, L.H., Cremers, C.W., Cremers, F.P., Wolfrum, U., Knipper, M., Roepman, R., Kremer, H. Hum. Mol. Genet. (2006)
- Mutant analysis reveals whirlin as a dynamic organizer in the growing hair cell stereocilium. Kikkawa, Y., Mburu, P., Morse, S., Kominami, R., Townsend, S., Brown, S.D. Hum. Mol. Genet. (2005)
- Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Adato, A., Lefèvre, G., Delprat, B., Michel, V., Michalski, N., Chardenoux, S., Weil, D., El-Amraoui, A., Petit, C. Hum. Mol. Genet. (2005)
- Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Delprat, B., Michel, V., Goodyear, R., Yamasaki, Y., Michalski, N., El-Amraoui, A., Perfettini, I., Legrain, P., Richardson, G., Hardelin, J.P., Petit, C. Hum. Mol. Genet. (2005)
- Linkage analysis of the whirler deafness gene on mouse chromosome 4. Fleming, J., Rogers, M.J., Brown, S.D., Steel, K.P. Genomics (1994)