antibody

Otoferlin Monoclonal Antibody

MBS190960

0.1 mg

455 USD

monoclonal

mouse

nonconjugated

western blot, immunocytochemistry

Antibody

Otoferlin Monoclonal Antibody

[Otoferlin]

[Anti-Otoferlin]

[otoferlin; Otoferlin; otoferlin; otoferlin; Fer-1-like protein 2]

[Otof; Otof; Fer1l2]

OTOF_RAT

Monoclonal

IgG1

Mouse

1998

This antibody recognizes human otoferlin.

100ug, Protein A-purified, lyophilized, 0.1M Tris, 0.1M glycine, 2% sucrose, 1mg/ml.

This product is stable for at least one year at -20°C to -70°C. Reconstited product should be stored in appropriate aliquots to avoid repeated freeze-thaw cycles.

Immunoblot (IB), Immunofluorescence (IF)

Immunoblotting: Use at 1-5ug/ml. A band of ~220kDa is detected. Immunofluorescence: Use at 2-10ug/ml. These are recommended concentrations. End user shouls determine optimal concentrations for their applications.

Testing Data

Antigen: GST fusion protein corresponding to aa 1-395 of human otoferlin (accession no. Q9HC10). Reconstitution: Reconstitute in distilled water.

Neuroscience and Signal Transduction Antibodies

Otoferlin protein is the product of the OTOF gene. Otoferlin is present in the brain and the cochlea of the inner ear where sound is processed. Hearing relies on Ca2+ influx-driven exocytosis of synaptic vesicles at the ribbon-type active zones of hair cells. The presence of several C2 domains in otoferlin, some of which bind Ca2+, suggest that otoferlin is a Ca2+ sensor for fusion in inner hair cell (IHC) synapses.

454606500

NP_001263649.1

NM_001276720.1

226,339 Da

human homolog is associated with an autosomal recessive form of prelingual sensorineural deafness, DFNB9 [RGD, Feb 2006]

OTOF: 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. Defects in OTOF are the cause of deafness autosomal recessive type 9 (DFNB9). 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 auditory neuropathy, autosomal recessive, type 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. Belongs to the ferlin family. 5 isoforms of the human protein are produced by alternative splicing. Protein type: Membrane protein, integral; Vesicle. Cellular Component: apical part of cell; basolateral plasma membrane; cell junction; cytoplasm; cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; plasma membrane; presynaptic active zone membrane; synaptic vesicle membrane. Molecular Function: calcium ion binding; protein binding; protein complex binding. Biological Process: sensory perception of sound; synaptic vesicle exocytosis; synaptic vesicle priming

0.1 mg

455 USD