Usher syndrome is a major cause of combined deafness and blindness. One form of the disease, termed USH1C, is now found to be caused by mutations in the gene encoding a PDZ-containing protein, harmonin. As interactions between PDZ proteins and their targets are known to mediate protein localization, signalling and maintenance of membrane characteristics, this discovery should accelerate our understanding of Usher syndrome and other auditory disorders.
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Montell, C. A PDZ protein ushers in new links. Nat Genet 26, 6–7 (2000). https://doi.org/10.1038/79186
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DOI: https://doi.org/10.1038/79186
