Gene Review:
DFNB31 - deafness, autosomal recessive 31
Homo sapiens
Synonyms:
Autosomal recessive deafness type 31 protein, CIP98, KIAA1526, PDZD7B, USH2D, ...
- 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)
- 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)
- CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase. Yap, C.C., Liang, F., Yamazaki, Y., Muto, Y., Kishida, H., Hayashida, T., Hashikawa, T., Yano, R. J. Neurochem. (2003)
- DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Mustapha, M., Chouery, E., Chardenoux, S., Naboulsi, M., Paronnaud, J., Lemainque, A., Mégarbané, A., Loiselet, J., Weil, D., Lathrop, M., Petit, C. Eur. J. Hum. Genet. (2002)
- Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Tlili, A., Charfedine, I., Lahmar, I., Benzina, Z., Mohamed, B.A., Weil, D., Idriss, N., Drira, M., Masmoudi, S., Ayadi, H. Hum. Mutat. (2005)
- Identification and characterization of human GRID2IP gene and rat Grid2ip gene in silico. Katoh, M., Katoh, M. Int. J. Mol. Med. (2003)