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- Table of Contents
Otoferlin Antibodies
AND OTOF ELISA kits, Otoferlin Proteins
Many biological assays use antibodies to detect Otoferlin, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with Otoferlin in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop Otoferlin antibodies...
Designing a Western blot for Otoferlin? The guide has the expected band size, antibodies backed by real blot images, the controls to run alongside, and protocols taken from published papers.
Open the OTOF Western Blot GuideOTOF Infographic by Boster Bio
All OTOF Products
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OTOF Overview
Facts about Otoferlin.
Otoferlin (OTOF)
Key calcium ion detector 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 way into the presynaptic SNARE proteins in 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).
Gene Information
| Human | |
|---|---|
| Gene Name: | OTOF |
| Uniprot: | Q9HC10 |
| Entrez: | 9381 |
Family
| Belongs to: |
|---|
| ferlin family |
Alternative Names
AUNB1; DFNB6; DFNB9; EC 2.7.10.1; EC 4.2.1.11; FER1L2NSRD9; Fer-1-like protein 2; otoferlin
Molecular Weight
Mass (kDA):
226.753 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 2p23.3 |
| Sequence: | 2; NC_000002.12 (26457203..26558756, complement) |
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.
Subcellular Localizations
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. Golgi apparatus membrane; Single-pass type II membrane protein. Cell junction, synapse, presynaptic cell 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)
Diseases
- Complete Hearing Loss
- Auditory Neuropathy
- Sensorineural Hearing Loss (disorder)
- Deaf Mutism
- Dystrophy
- Deafness Congenital
- Hearing Loss, Central
- Muscular Dystrophy
- Hearing Problem
- Vestibulocochlear Nerve Diseases
- Distal Muscular Dystrophies
- Retinal Degeneration
Pathways
- Exocytosis
- Membrane Fusion
- Localization
- Vesicle Fusion
- Spermatogenesis
- Pathogenesis
- Transport
- Signal Transmission
- Fertilization
- Echolocation
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/OTOF
bosterbio.com/bosterbio-gene-info-cards/OTOF
References
PMID: 10192385 by Yasunaga S., et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
PMID: 10903124 by Yasunaga S., et al. OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.