OTOG Gene: Otogelin – Function, Mutations, and Related Diseases

OTOG encodes otogelin, a large glycoprotein that is a major component of the acellular membranes of the inner ear, including the tectorial membrane in the cochlea and the otoconial membrane in the vestibular system. Otogelin is essential for the proper mechanical coupling of sensory hair cells to these overlying structures, thereby playing a critical role in auditory and vestibular function. Mutations in OTOG cause autosomal recessive nonsyndromic hearing loss (DFNB18B) and can also contribute to balance disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Inner ear morphogenesis

• Sensory perception of mechanical stimulus

Otogelin is a large extracellular glycoprotein (approximately 3000 amino acids) that localizes to the tectorial membrane of the cochlea and the otoconial membrane of the vestibular system. It contains multiple von Willebrand factor type D domains and is involved in the formation and maintenance of these acellular gels, which are critical for mechanotransduction. Otogelin interacts with other matrix components such as otogelin-like protein (OTOGL) and alpha-tectorin (TECTA).