| Modification Notes |
Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDH15 (protocadherin 15), also known as USH1F or DFNB23, is a 1,955 amino acid single-pass type I membrane protein that contains 11 cadherin domains and exists as multiple alternatively spliced isoforms. Expressed in testis, brain, lung, kidney and spleen, PCDH15 functions as a calcium-dependent cell-adhesion protein that is crucial for the maintenance of normal cochlear and retinal function. Defects in the gene encoding PCDH15 are associated with Usher syndrome type 1F (USH1F), Usher syndrome type 1D/F (USH1DF) and non-syndromic sensorineural deafness autosomal recessive type 23 (DFNB23), all of which are associated with deafness. Multiple isoforms of PCDH15 exist due to alternative splicing events. |