- Catalog number
- PB9616
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Otoferlin is a protein that in humans is encoded by the OTOF gene. Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has three 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 six C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multipleisoforms have been found for this gene.
- Synonyms
- Otoferlin; Fer-1-like protein 2; OTOF; FER1L2
- Gene Name
- OTOF
- Gene ID
- 9381
- UniProt
- Q9HC10
- Host
- Rabbit
- Reactivity
- Mouse, Rat
- Cross Reactivity
- No cross-reactivity with other proteins
- Immunogen
- A synthetic peptide corresponding to a sequence at the C-terminus of human Otoferlin, identical to the related mouse and rat sequences.
- Clonality
- Polyclonal
- 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.
- Applications
- IHC, WB
- Field of Research
- Auditory System, Neuroscience, Neurotransmission, Secretory Vesicles, Sensory System
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- 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 (By similarity) . .
- References & Citations
- 1. Entrez Gene: OTOF otoferlin. 2. Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I (May 2008) . A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 29 (6) : 823–31. 3. Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C (Apr 1999) . A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 21 (4) : 363–9.
- Storage Conditions
- Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
- Calculated Molecular Weight
- 227 kDa
- Observed Molecular Weight
- 227 kDa
- Specificity
- No cross reactivity with other proteins.
- Gene Name Synonym
- Otoferlin
- Subcellular Location
- 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 . 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) . Colocalizes with GPR25 and RAB8B in inner hair cells (By similarity) . .
- Sequence Similarities
- Belongs to the ferlin family.
- Protein Name
- Otoferlin
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl and 0.2 mg Na2HPO4.
