Gene Symbol | PCDH15 |
Entrez Gene ID | 65217 |
Full Name | protocadherin related 15 |
Synonyms | CDHR15,DFNB23,USH1F |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Usher syndrome, type 1F, 602083 (3); Deafness, autosomal recessive 23, 609533 (3); Usher syndrome, type 1D/F digenic, 601067 (3) |