Species Human Entrez 65217 | Human Mouse Ensembl ENSG00000150275 | |
Aliases PCDH15, CDHR15, DFNB23, USH1F, protocadherin-related 15, protocadherin related 15 External IDs MGI: 1891428 HomoloGene: 23401 GeneCards: PCDH15 | ||
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
Contents
Function
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a 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 CDH23 to form tip-link filaments.
Clinical significance
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10.
References
PCDH15 Wikipedia(Text) CC BY-SA