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Products:Neuroscience >> Neurotransmission >> Secretory Vesicles >> SNAPs & SNAREs
Overview
Product name
Anti-Otoferlin antibody [13A9]
See all Otoferlin products (2) ...
Description
Mouse monoclonal [13A9] to Otoferlin
Specificity
This antibody reacts specifically with human Otoferlin protein (220 kDa).
Tested applications
IHC-FoFr, WB, IP, ICC/IFmore details
Cross reactivity
Reacts with
Mouse, Rat, Human
Immunogen
Tagged fusion protein, corresponding to amino acids 1-395 of Human Otoferlin.
Properties
Form
Liquid
Storage instructions
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage buffer
Preservative: None
Constituents: Ascites
Concentration
Concentration information loading...
Purity
Ascites
Clonality
Monoclonal
Clone number
13A9
Isotype
IgG1
Light chain type
kappa
Research areas
Neuroscience >> Sensory System >> Auditory system
Neuroscience >> Neurotransmission >> Secretory Vesicles >> Other
Neuroscience >> Neurotransmission >> Secretory Vesicles >> SNAPs & SNAREs
Applications
Show applications key
Our Abpromise guarantee covers the use of ab53233 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
IHC-FoFr
WB
IP
ICC/IF
Application notes
ICC/IF: 1/100 - 1/500.
IHC-FoFr: 1/50 (PMID 19417007).
IP: 1/50 - 1/200.
WB: 1/200 - 1/1000. Predicted molecular weight: 227 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Target
Function
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.
Tissue specificity
Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.
Involvement in disease
Defects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9) [MIM:601071]. DFNB9 is a form of 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.
Defects in OTOF are a cause of non-syndromic auditory neuropathy autosomal recessive (NSRAN) [MIM:601071]. NSRAN is a form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but 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 NSRAN phenotype can be temperature sensitive.
Sequence similarities
Belongs to the ferlin family.
Contains 4 C2 domains.
Cellular localization
Cytoplasmic vesicle > secretory vesicle > synaptic vesicle membrane. Basolateral cell membrane. Endoplasmic reticulum 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). Colocalizes with GPR25 and RAB8B in inner hair cells.
Target information above from: UniProt accessionQ9HC10
The UniProt Consortium
The Universal Protein Resource (UniProt) in 2010
Nucleic Acids Res. 38:D142-D148 (2010).
Alternative names
- AUNB1 antibody
- Deafness, autosomal recessive 9 antibody
- DFNB6 antibody
see all
Database links
- Entrez Gene: 9381 Human
- Entrez Gene: 83762 Mouse
- Entrez Gene: 84573 Rat
- Omim: 603681 Human
- SwissProt: Q9HC10 Human
- SwissProt: Q9ESF1 Mouse
- SwissProt: Q9ERC5 Rat
- Unigene: 91608 Human
see all
References for Anti-Otoferlin antibody [13A9] (ab53233)
This product has been referenced in:
- Reisinger Eet al. Probing the functional equivalence of otoferlin and synaptotagmin 1 in exocytosis. J Neurosci 31:4886-95 (2011).Read more (PubMed: 21451027) »
- Johnson SLet al. Synaptotagmin IV determines the linear Ca2+ dependence of vesicle fusion at auditory ribbon synapses. Nat Neurosci 13:45-52 (2010). IHC-Fr; Mouse, Rat.Read more (PubMed: 20010821) »
See all 6 publications for this product
Publishing research using ab53233? Please let us know so that we can cite the reference in this datasheet
Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"