Tags: Protein.
Otoferlin is a protein that in humans is encoded by the OTOF gene.Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness DFNB9. The short form of the encoded protein has three C2 domains a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin while the long form has six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion.