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otoferlin


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The product of a gene found in the critical region of chromosome 2p23.1 for a form of nonsyndromic deafness. Like ferlin, a transmembrane protein with multiple C2 domains probably involved in calcium-dependent membrane fusion events. Otoferlin expression in mouse hair cells correlates with afferent synaptogenesis, and otoferlin interacts with syntaxin-1.

Subjects: Medicine and Health — Chemistry.


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