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PCDH15 Geneprotocadherin-related 15 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] |
pcdh15 Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term pcdh15 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
PCDH15 Gene SetFrom Pathway Commons Protein-Protein Interactions interacting proteins for PCDH15 from the Pathway Commons Protein-Protein Interactions dataset. |
Ush1D/F, Cdh23/Pcdh15, Digenic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Ush1D/F, Cdh23/Pcdh15, Digenic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |