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Synonyms: Protocadherin Related 15,Cadherin-Related Family Member 15,USH1F,Deafness, Autosomal Recessive 23,Protocadherin 15,Protocadherin-15,CDHR15,DFNB23
Background: This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.