PCDH15

Also known as CDHR15, DFNB23, USH1F, protocadherin-related 15, protocadherin related 15

Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.

Gene data

PCDH15

Name: protocadherin related 15
Type: protein-coding
Position: 53,802,771–55,627,942 (−)
Aliases: CDHR15, DFNB23, USH1F
Ensembl: ENSG00000150275
RefSeq RNA: NM_001142763.2, NM_001142764.2, NM_001142765.2, NM_001142766.2, NM_001142767.2
RefSeq protein: NP_001136235.1, NP_001136236.1, NP_001136237.1, NP_001136238.1, NP_001136239.1

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].