OTOF

The OTOF gene, known as the otoferlin-encoding gene, plays a pivotal role in the process of hearing formation. The protein encoded by this gene is a presynaptic membrane fusion protein, crucial for signal transmission between hair cells and nerves. When mutations occur in the OTOF gene, they can affect the release of neurotransmitters, resulting in the inability of sound signals to be transmitted normally to the brain, thus leading to hearing impairment. Mutations in the OTOF gene are closely associated with autosomal recessive non-syndromic deafness, which manifests as prelingual deafness and often displays a familial clustering pattern. Currently, there is no effective treatment available, but early screening and diagnosis are crucial for mitigating the impact of hearing loss. With the development of gene editing technology, there is hope that genetic therapy and other means may be used in the future to correct OTOF gene mutations, bringing hope to patients with hearing loss.

Popular Product:

Recombinant Human Otoferlin (OTOF), partial

Validated Data

SDS

(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.