Otogelin

Otogelin is a protein that in humans is encoded by the OTOG gene. This protein is primarily found in the inner ear, where it plays a crucial role in maintaining the structural integrity of the cochlea and the vestibular system. Mutations in the OTOG gene can lead to hearing loss and balance disorders.

Function

Otogelin is a large extracellular matrix glycoprotein that is expressed in the acoustic maculae and the spiral limbus of the cochlea. It is believed to be involved in maintaining the structural integrity of the inner ear, particularly the cochlea and the vestibular system. Otogelin interacts with other proteins, such as tectorin alpha and tectorin beta, to form a complex that is essential for normal hearing and balance.

Clinical significance

Mutations in the OTOG gene can lead to autosomal recessive non-syndromic hearing loss. This is a type of hearing loss that is not associated with other signs and symptoms. In addition, mutations in the OTOG gene can also cause vestibular dysfunction, which can lead to balance disorders.

Research

Research is ongoing to better understand the role of otogelin in the inner ear and to develop potential treatments for hearing loss and balance disorders caused by mutations in the OTOG gene.

See also

• Hearing loss
• Vestibular system
• Cochlea
• Protein
• Gene

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