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OTOF / Otoferlin
otoferlin
Key calcium ion sensor involved in the Ca2+-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes.
| Gene Name: | otoferlin |
| Synonyms: | OTOF, AUNB1, DFNB6, DFNB9, Otoferlin, Fer-1-like protein 2, FER1L2, NSRD9 |
| Target Sequences: | NM_004802 NP_004793.2 Q9HC10 |
Publications (1)
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