Recombinant Human Otoferlin protein (GST tag N-Terminus)

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

The otoferlin protein also known as OTOF plays an important mechanical role in the auditory system by serving as an important synaptic vesicle component for neurotransmitter release in inner hair cells of the cochlea. It has a molecular mass of approximately 230 kDa. Otoferlin is expressed primarily in the cochlea particularly in the sensory hair cells essential for hearing. Its functionality hinges on its capacity to serve as a calcium-sensor facilitating the rapid exocytosis of neurotransmitter-filled vesicles at the synaptic ribbon.

Biological function summary

Otoferlin contributes to sound perception by coordinating the timely release of synaptic vesicles that transmit auditory signals to the brain. It is part of a complex network within the auditory pathway interacting with other proteins important for synaptic function including synaptotagmin. Significant for its role in calcium-binding otoferlin participates in the fine-tuning of synaptic transmission ensuring efficient signaling required for precise auditory processing.

Pathways

Otoferlin is integral to the auditory signaling pathways especially the cochlear nerve pathway responsible for conveying sound information to the brain. It actively participates in vesicular trafficking and synaptic vesicle cycle ensuring high fidelity auditory signal transduction. Otoferlin works closely with proteins such as synaptophysin and syntaxin which are involved in the vesicle fusion process highlighting its role in facilitating efficient neurotransmitter release.

Otoferlin has a significant association with auditory processing conditions. Mutations in the otoferlin gene lead to severe-to-profound hereditary hearing loss specifically a form of non-syndromic autosomal recessive hearing impairment (DFNB9). Through this condition otoferlin has connections to proteins involved in synaptic vesicle recycling malfunctions contributing to auditory neuropathy. Additionally otoferlin-related dysfunction implicates it in conditions affecting synaptic transmission stability which are vital considerations in therapeutic strategies for hearing loss.