Snaring Otoferlin's Role in Deafness
نویسنده
چکیده
Mutations in the gene encoding otoferlin are known to cause deafness, but the mechanism is unclear. In this issue, Roux et al. (2006) demonstrate that otoferlin interacts with SNARE molecules at the afferent synapses of cochlear inner hair cells to trigger exocytosis of neurotransmitter.
منابع مشابه
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.
Mutations within OTOF encoding otoferlin lead to a recessive disorder called DFNB9. Several studies have indicated otoferlin's association with ribbon synapses of cochlear sensory hair cells, as well as data showing the protein's presence in neurons, nerve fibers and hair cells, suggesting a more ubiquitous function. Otoferlin's co-localization not only with ribbon synaptic proteins, but also w...
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ورودعنوان ژورنال:
- Cell
دوره 127 شماره
صفحات -
تاریخ انتشار 2006