PCDH15

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolPCDH15
Nameprotocadherin related 15
Typeprotein-coding
Sourcemygene

Summary

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 add

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This is an externally resolved entity

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