| Modification Notes |
Otoferlin is a single-pass type II membrane protein composed of 1,230 amino acid residues. Otoferlin exists in four isoforms; isoform 1 is the full-length Otoferlin protein, whereas isoforms 2-4 are shorter versions of the protein. Expression of isoforms 1 and 3 is demonstrated in adult brain, while isoform 2 is expressed in the fetus, adult brain, heart, placenta, skeletal muscle and kidney tissues. Otoferlin has three C2 domains and a single carboxy-terminal transmembrane domain. The Otoferlin gene, OTOF, and its surrounding genes map to 2p23-p22, and the 5’ region of OTOF is centromeric. Mutations in the OTOF gene are implicated in deafness. Otoferlin is homologous to the C. elegans spermatogenesis factor FER-1 and to human dysferlin, implicating the involvement of Otoferlin in the Ca2+-triggered synaptic vesicle-plasma membrane fusion. |