Mutations in this gene have been associated with hearing loss, which is consistent with its location at the [[Usher syndrome]] type 1F (USH1F) critical region on chromosome 10.<ref name="entrez">{{cite web | title = Entrez Gene: PCDH15 protocadherin 15| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65217| accessdate = }}</ref>
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the [[Usher syndrome]] type 1F (USH1F) critical region on chromosome 10.<ref name="entrez">{{cite web | title = Entrez Gene: PCDH15 protocadherin 15| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=65217| accessdate = }}</ref> Variation within it has also been found to be associated with normal differences in human facial appearance.<ref>http://www.pnas.org/content/115/4/E676.short</ref>
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. The protein product of this gene consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain and a unique cytoplasmic domain. It plays an essential role in maintenance of normal retinal and cochlear function.[3] It is thought to interact with CDH23 to form tip-link filaments.[4]
Clinical significance
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the Usher syndrome type 1F (USH1F) critical region on chromosome 10.[3] Variation within it has also been found to be associated with normal differences in human facial appearance.[5]
↑Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (Dec 2003). "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23". Hum Mol Genet. 12 (24): 3215–23. doi:10.1093/hmg/ddg358. PMID14570705.
Alagramam KN, Murcia CL, Kwon HY, et al. (2001). "The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene". Nat. Genet. 27 (1): 99–102. doi:10.1038/83837. PMID11138007.
Alagramam KN, Yuan H, Kuehn MH, et al. (2001). "Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F". Hum. Mol. Genet. 10 (16): 1709–18. doi:10.1093/hmg/10.16.1709. PMID11487575.
Ben-Yosef T, Ness SL, Madeo AC, et al. (2003). "A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome". N. Engl. J. Med. 348 (17): 1664–70. doi:10.1056/NEJMoa021502. PMID12711741.
Ouyang XM, Yan D, Du LL, et al. (2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population". Hum. Genet. 116 (4): 292–9. doi:10.1007/s00439-004-1227-2. PMID15660226.
