PCDH15

Protocadherin-15 is a is_associated_with::protein that in humans is encoded by the PCDH15 is_associated_with::gene.

Function
This gene is a member of the is_associated_with::cadherin superfamily. Family members encode integral membrane proteins that mediate is_associated_with::calcium-dependent cell-cell adhesion. The protein product of this gene consists of a is_associated_with::signal peptide, 11 extracellular calcium-binding domains, a is_associated_with::transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function. It is thought to interact with is_associated_with::CDH23 to form is_associated_with::tip-link filaments.

Clinical significance
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the is_associated_with::Usher syndrome type 1F (USH1F) critical region on chromosome 10.