Cadherin-23 represents the first in this family of calcium binding proteins of which mutations in the extracellular calcium binding domain contribute to an inherited disorder, Usher syndrome type 1D (USH1D). Patients with USH1D exhibit congenital sensorineural hearing loss, vestibular dysfunction, and visual impairment due to early onset of retinitis pigmentosa (RP). In the inner ear, cadherin-23 interacts with myosin VIIIa and harmonin to form a functional network duing hair cell differentiation, and in the retina to assemble a supra-molecular complex contributing to the organization of the cytoskeletal matrices of the pre- and post-synaptic region. A number of cadherin-23 splice variants exist in association with various phenotypic expression, indicating that differential mutations result in variable presentation of the disease.
应用类型
WB
免疫原
A synthetic peptide corresponding to residues in Human CDH23
