Entrez gene ID | | 65217 |
Official gene symbol | | PCDH15 |
Full name | | protocadherin-related 15 |
Aliases | | ,CDHR15,DFNB23,DKFZp667A1711,USH1F, |
Gene 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 additional variants are likely to occur. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q21.1 |
Gene position | | 56561051 - 55562531 Map Viewer |
Gene orientation | | minus |
Gene size | | 998521 bp |
Gene sequence |
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OMIM ID | | 605514 |