PCDH15
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.[5][6][7]
Function
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.[7] It is thought to interact with CDH23 to form tip-link filaments.[8]
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.[7] Variation within it has also been found to be associated with normal differences in human facial appearance.[9]
