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

Name: Mouse Anti-OTOF Recombinant Antibody (13A9)
SKU: CBMAB-0558CQ
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

13A9

Application

FC, IF, IHC-FoFr, IHC-Fr, IP, WB

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.

More Infomation

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

Human	9381
Mouse	83762
Rat	84573

UniProt ID

Human	Q9HC10
Mouse	Q9ESF1
Rat	Q9ERC5

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

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Isotype control

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

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