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Mouse Anti-OTOF Recombinant Antibody (13A9) (CBMAB-0558CQ)


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Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
13A9
Antibody Isotype
IgG1
Application
FC, IF, IHC-FoFr, IHC-Fr, IP, WB

Basic Information

Immunogen
Tagged fusion protein, between 1-395 of Human Otoferlin
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
OTOF
Introduction
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. Diseases associated with OTOF include Deafness, Autosomal Recessive 9 and Nonsyndromic Deafness. GO annotations related to this gene include calcium ion binding and AP-2 adaptor complex binding. An important paralog of this gene is FER1L6.
Entrez Gene ID
Human9381
Mouse83762
Rat84573
UniProt ID
HumanQ9HC10
MouseQ9ESF1
RatQ9ERC5
Alternative Names
AUNB1; DFNB6; DFNB9; NSRD9; FER1L2
Function
Key calcium ion sensor involved in the Ca2+-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).
Biological Process
Membrane fusionManual Assertion Based On ExperimentTAS:ProtInc
Plasma membrane organizationManual Assertion Based On ExperimentIBA:GO_Central
Sensory perception of soundManual Assertion Based On ExperimentTAS:ProtInc
Synaptic vesicle exocytosisISS:UniProtKB
Synaptic vesicle primingManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane
Basolateral cell membrane
Endoplasmic reticulum membrane
Golgi apparatus membrane
Cell junction, synapse, presynaptic cell membrane
Cell membrane
Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs) at postnatal day 30 (P30). Colocalizes with GPR25 and RAB8B in inner hair cells.
Involvement in disease
Deafness, autosomal recessive, 9 (DFNB9):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Auditory neuropathy, autosomal recessive, 1 (AUNB1):
A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive.
Topology
Cytoplasmic: 1-1963
Helical: 1964-1984
Extracellular: 1985-1997
More Infomation

Brigande, J. V. (2024). Otoferlin gene therapy restores hearing in deaf children. Molecular Therapy.

Tang, H., Wang, H., Wang, S., Hu, S. W., Lv, J., Xun, M., ... & Shu, Y. (2023). Hearing of Otof-deficient mice restored by trans-splicing of N-and C-terminal otoferlin. Human Genetics, 142(2), 289-304.

Ford, C. L., Riggs, W. J., Quigley, T., Keifer Jr, O. P., Whitton, J. P., & Valayannopoulos, V. (2023). The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review. Human Genetics, 142(10), 1429-1449.

Rankovic, V., Vogl, C., Dörje, N. M., Bahader, I., Duque-Afonso, C. J., Thirumalai, A., ... & Moser, T. (2021). Overloaded adeno-associated virus as a novel gene therapeutic tool for otoferlin-related deafness. Frontiers in Molecular Neuroscience, 13, 600051.

Stalmann, U., Franke, A. J., Al-Moyed, H., Strenzke, N., & Reisinger, E. (2021). Otoferlin is required for proper synapse maturation and for maintenance of inner and outer hair cells in mouse models for DFNB9. Frontiers in Cellular Neuroscience, 15, 677543.

Cox, A., Tolkach, Y., Stein, J., Kristiansen, G., Ritter, M., & Ellinger, J. (2021). Otoferlin is a prognostic biomarker in patients with clear cell renal cell carcinoma: A systematic expression analysis. International Journal of Urology, 28(4), 424-431.

Vona, B., Rad, A., & Reisinger, E. (2020). The many faces of DFNB9: relating OTOF variants to hearing impairment. Genes, 11(12), 1411.

Tertrais, M., Bouleau, Y., Emptoz, A., Belleudy, S., Sutton, R. B., Petit, C., ... & Dulon, D. (2019). Viral transfer of mini-otoferlins partially restores the fast component of exocytosis and uncovers ultrafast endocytosis in auditory hair cells of otoferlin knock-out mice. Journal of Neuroscience, 39(18), 3394-3411.

Takago, H., Oshima-Takago, T., & Moser, T. (2019). Disruption of otoferlin alters the mode of exocytosis at the mouse inner hair cell ribbon synapse. Frontiers in molecular neuroscience, 11, 492.

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For research use only. Not intended for any clinical use.

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