CDH23

Cadherin-23 is a is_associated_with::protein that in humans is encoded by the CDH23 is_associated_with::gene.

Function
This gene is a member of the is_associated_with::cadherin superfamily, genes encoding is_associated_with::calcium dependent cell-cell adhesion is_associated_with::glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the protein is thought to be involved in is_associated_with::stereocilia organization and hair bundle formation. Specifically, it is thought to interact with is_associated_with::protocadherin 15 to form is_associated_with::tip-link filaments.

Clinical significance
The gene is located in a region containing the human mutation_results_in::deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene.

Interactions
CDH23 has been shown to interact with is_associated_with::USH1C.