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FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

2014; National Academy of Sciences; Volume: 111; Issue: 27 Linguagem: Inglês

10.1073/pnas.1401950111

1091-6490

Oscar Diaz‐Horta, Asli Subasioglu-Uzak, M’hamed Grati, Alexandra A. DeSmidt, Joseph Foster, Lei Cao, Güney Bademci, Suna Tokgöz-Yılmaz, Duygu Duman, Filiz Başak Cengiz, Clemer Abad, Rahul Mittal, Susan H. Blanton, Xue Z. Liu, Amjad Farooq, Katherina Walz, Zhongmin Lu, Mustafa Tekin,

Marine animal studies overview

Significance Concerted action of thousands of proteins is required for the inner ear to convert acoustic waves into electrical signals for hearing. Many of these proteins are currently unknown. This study uses a genetic approach to identify FAM65B as a gene mutated in a family with sensorineural hearing loss. Characterization of FAM65B shows that it is a component of the plasma membrane of the stereocilia hair bundle, the essential organelle in which electrical signals originate in the inner ear. Thus, FAM65B is a previously unrecognized component of the inner ear that is crucial for hearing.