Anti-Otoferlin Antibody Picoband® Fluoro647 Conjugated

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. Several transcript variants encoding multipleisoforms have been found for this gene.

Key calcium ion sensor involved in the Ca (2+) -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 (By similarity) . .

1. Entrez Gene: OTOF otoferlin. 2. Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (May 2008) . A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 29 (6) : 823–31. 3. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999) . A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21 (4) : 363–9.

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type II membrane protein . Basolateral cell membrane ; Single-pass type II membrane protein . Endoplasmic reticulum membrane ; Single-pass type II membrane protein . Cell membrane ; Single-pass type II membrane protein . Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs) . Colocalizes with GPR25 and RAB8B in inner hair cells (By similarity) . .