CDH23 : cadherin related 23

Description

The CDH23 (cadherin related 23) is a protein-coding gene located on chromosome 10.

The CDH23 gene provides instructions for creating cadherin 23, a protein that helps cells stick together. Different versions of this protein are found in different cell types, including a short version in the retina, the light-sensitive part of the eye, and a longer version in the inner ear. Cadherin 23 works with other proteins in the cell membrane as part of a complex involved in cell attachment. Research indicates that the cadherin 23 protein complex helps shape structures in the inner ear called hair bundles. These bundles are made of stereocilia, hairlike projections that bend in response to sound waves. This bending is crucial for converting sound waves into nerve signals, which are then sent to the brain. Stereocilia are also part of the vestibular system, the portion of the inner ear that helps maintain balance and orientation. Bending of these stereocilia is needed to transmit signals from the vestibular system to the brain. The role of the cadherin 23 protein complex in the retina is less well understood. Studies suggest it plays a crucial role in the function of photoreceptor cells, which are specialized cells that detect light and color.

Cadherins are a family of proteins that mediate cell-cell adhesion in a calcium-dependent manner. CDH23, also known as Otocadherin, is a member of this family and is essential for proper organization of the stereocilia bundle of hair cells in the cochlea and vestibule during late embryonic and early postnatal development. It plays a crucial role in the functional network comprised of USH1C, USH1G, CDH23, and MYO7A, which is responsible for mechanotransduction in cochlear hair cells. CDH23 is required for normal hearing.

CDH23 is also known as CDHR23, PITA5, USH1D.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing