Otoferlin (OTOF) ELISA Kit for Rat

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: 6q14

Cellular Component: apical part of cell; basolateral plasma membrane; cell junction; cytoplasm; endoplasmic reticulum; endoplasmic reticulum membrane; integral component of 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