Aliases for PCDH15 Gene
External Ids for PCDH15 Gene
Previous HGNC Symbols for PCDH15 Gene
Previous GeneCards Identifiers for PCDH15 Gene
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. [provided by RefSeq, Dec 2008]
GeneCards Summary for PCDH15 Gene
PCDH15 (Protocadherin Related 15) is a Protein Coding gene. Diseases associated with PCDH15 include Usher Syndrome, Type 1F and Deafness, Autosomal Recessive 23. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH11X.
UniProtKB/Swiss-Prot for PCDH15 Gene
Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.