PCDH15
Template:Short description Template:Infobox gene Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.[1][2][3]
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.[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]
References
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Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
- PDBe-KB provides an overview of all the structure information available in the PDB for Human Protocadherin-15 (PCDH15)