CDH23

CDH23 is a gene that encodes the protein cadherin-related 23, which is involved in the function of the inner ear and is associated with hearing. Mutations in this gene can lead to hearing loss and are implicated in certain genetic disorders.

Structure and Function

CDH23 is part of the cadherin superfamily, which is a group of proteins that mediate calcium-dependent cell-cell adhesion. The protein encoded by CDH23 is a large, single-pass transmembrane protein that is primarily expressed in the inner ear. It plays a crucial role in the formation and maintenance of the stereocilia of hair cells, which are essential for the mechanotransduction process that converts sound waves into electrical signals in the auditory pathway.

Genetic Implications

Mutations in the CDH23 gene are known to cause both autosomal recessive and autosomal dominant forms of hearing loss. One of the most well-known conditions associated with CDH23 mutations is Usher syndrome, particularly type 1D, which is characterized by congenital deafness, progressive vision loss due to retinitis pigmentosa, and balance issues.

Usher Syndrome

Usher syndrome is a genetic disorder that results in a combination of hearing loss and visual impairment. It is the most common condition that affects both hearing and vision. CDH23 mutations are specifically linked to Usher syndrome type 1D, which is one of the more severe forms of the disorder.

Research and Clinical Significance

Research into CDH23 has provided significant insights into the molecular mechanisms of hearing and balance. Understanding the role of CDH23 in the inner ear has implications for developing potential therapies for hearing loss. Genetic testing for CDH23 mutations can be used to diagnose Usher syndrome and other forms of hereditary hearing loss, allowing for early intervention and management.

Also see

• Usher syndrome
• Hearing loss
• Cadherin
• Inner ear