Otoferlin (OTOF), ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of OTOF elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9900686 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Otoferlin (OTOF) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing OTOF. The ELISA analytical biochemical technique of the MBS9900686 kit is based on OTOF antibody-OTOF antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect OTOF antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, OTOF. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

226,535 Da

Otoferlin

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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

Chromosomal Location of Human Ortholog: 2p23.3

Cellular Component: basolateral plasma membrane; cell junction; cytosol; endoplasmic reticulum membrane; integral component of membrane; synaptic vesicle membrane

Molecular Function: calcium ion binding

Biological Process: sensory perception of sound; synaptic vesicle exocytosis

Disease: Deafness, Autosomal Recessive 9

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