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Mutations in OTOF are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. Additionally we are shipping Otoferlin Antibodies (12) and and many more products for this protein.
Our observation of the discordant audiologic phenotype within the same DFNB9 family is more likely due to the loss of OAE over time rather than a genotype-phenotype correlation.
audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation
The C2F (show EMG1 ELISA Kits) and C2C domains of otoferlin preferentially bind phosphatidylinositol 4,5-bisphosphate (4,5)P2.
We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants.
OTOF gene mutataion is found in a Chinese patient with auditory neuropathy spectrum disorder.
The six probable pathogenic variants of OTOF genes were novel: 2 nonsense mutations (p.W717X, p.S1368X) and 4 missense mutations (p.D450E, p.R1583H, p.V1778I, p. E1803A).
Data indicate that dysferlin (show DYSF ELISA Kits), otoferlin, and myoferlin (show MYOF ELISA Kits) do not merely passively adsorb to membranes but actively sculpt lipid bilayers.
The study concludes that OTOF mutations are not the major cause of autosomal recessive nonsyndromic hearing loss in the Iranian population.
nine different mutations of OTOF were detected(seven of them were novel)in Japanese patients with auditory neuropathy
Otoferlin is a multi-C2 domain protein associated with genetic human deafness. It functions in hair-cell exocytosis. Several otoferlin C2 domains bind to Ca2+, phospholipids, & proteins. Review.
Furthermore, this F-actin mesh network attached to the synaptic ribbons directly influences the efficiency of otoferlin-dependent exocytosis and its sensitivity to intracellular hydrostatic pressure.
Mice that carry a mutation in a calcium binding domain of Otoferlin, the putative calcium sensor at hair cell synapses, have normal distortion product otoacoustic emissions (DPOAEs), but auditory brain stem responses (ABRs) are absent.
a direct role for otoferlin in exocytosis and modulation of calcium-dependent membrane fusion
The analysis of otoferlin knockout mice gave the 1st insights into its function in inner hair cell calcium-dependent exocytosis & type-i vestibular hair cells. Review.
Co-localization studies revealed an overlap of Ergic2 (show ERGIC2 ELISA Kits) and Otoferlin signals in IHCs and neurons of cerebral cortical layer I making Ergic2 (show ERGIC2 ELISA Kits) the promising binding candidate
Otoferlin deletion does not affect transmitter release at hippocampal synapses.
Otoferlin is a calcium sensor that can directly regulate soluble N-ethyl-maleimide sensitive fusion protein attachment protein receptor-mediated membrane fusion reactions.
Otoferlin underlies highly efficient calcium ion-dependent membrane fusion, a process likely essential to increase the probability and synchrony of vesicle fusion events at the mature inner hair cell ribbon synapse.
Deficient vesicle replenishment underlies the hearing impairment of Otof(Pga/Pga) mice. Otoferlin may confer the high capacity for vesicle re-supply to the inner hair cell synapse.
Otoferlin is essential for a late step of synaptic vesicle exocytosis and may act as the major Ca(2 (show CA2 ELISA Kits)+) sensor triggering membrane fusion at the auditory inner hair cell ribbon synapse.
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 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 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.
, fer-1-like protein 2
, otoferlin transcript variant 46-48