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Gene Review

Otof  -  otoferlin

Mus musculus

Synonyms: Fer-1-like protein 2, Fer1l2, Otoferlin
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High impact information on Otof

  • Exocytosis in Otof(-/-) IHCs is almost completely abolished, despite normal ribbon synapse morphogenesis and Ca(2+) current [1].
  • Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse [1].
  • Otoferlin binds Ca(2+) and displays Ca(2+)-dependent interactions with the SNARE proteins syntaxin1 and SNAP25 [1].
  • We show that otoferlin expression in the hair cells correlates with afferent synaptogenesis and find that otoferlin localizes to ribbon-associated synaptic vesicles [1].
  • We studied otoferlin, a predicted C2-domain transmembrane protein, which is defective in a recessive form of human deafness [1].

Biological context of Otof


Anatomical context of Otof

  • Otoferlin-expressing, Ca(v)1.3 deletion-sensitive outer hair cells in the low frequency range could be clearly separated from otoferlin-negative, BK deletion-sensitive outer hair cells in the high frequency range [2].


  1. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Roux, I., Safieddine, S., Nouvian, R., Grati, M., Simmler, M.C., Bahloul, A., Perfettini, I., Le Gall, M., Rostaing, P., Hamard, G., Triller, A., Avan, P., Moser, T., Petit, C. Cell (2006) [Pubmed]
  2. Two classes of outer hair cells along the tonotopic axis of the cochlea. Engel, J., Braig, C., R??ttiger, L., Kuhn, S., Zimmermann, U., Blin, N., Sausbier, M., Kalbacher, H., M??nkner, S., Rohbock, K., Ruth, P., Winter, H., Knipper, M. Neuroscience (2006) [Pubmed]
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