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PCDH15 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.
Gene Name: | protocadherin-related 15 |
Family/Subfamily: | Cadherin , not assigned-Cadherin |
Synonyms: | PCDH15, Ames waltzer, CDHR15, DFNB23, Nmf19, Protocadherin-related 15, USH1F, Usher syndrome 1F, Protocadherin 15, Protocadherin-15 |
Target Sequences: | NM_033056 NP_149045.3 Q96QU1 |
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