PCDH15
Description
The PCDH15 (protocadherin related 15) is a protein-coding gene located on chromosome 10.
Protocadherin-15 is a protein encoded by the PCDH15 gene in humans. It belongs to the cadherin superfamily, which encodes integral membrane proteins mediating calcium-dependent cell-cell adhesion. PCDH15 consists of a signal peptide, 11 extracellular calcium-binding domains, a transmembrane domain, and a unique cytoplasmic domain. It is crucial for maintaining normal retinal and cochlear function and is believed to interact with CDH23 to form tip-link filaments. Mutations in the PCDH15 gene have been linked to hearing loss, aligning with its location in the Usher syndrome type 1F (USH1F) critical region on chromosome 10. Variations in PCDH15 have also been associated with normal differences in human facial appearance.
PCDH15 is also known as CDHR15, DFNB23, USH1F.
