PCDH15

PCDH15 is a gene in humans that encodes the protein Protocadherin-15. This protein is a member of the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mutations in this gene are associated with Usher syndrome type 1F and non-syndromic autosomal recessive deafness.

Function

Protocadherin-15 is a member of the cadherin superfamily. Cadherins are membrane proteins that mediate homophilic cell-cell adhesion and play critical roles in cell adhesion, morphogenesis, and signaling. Protocadherin-15 is thought to be important for the development and function of the inner ear and retina.

Clinical significance

Mutations in the PCDH15 gene are associated with Usher syndrome type 1F and non-syndromic autosomal recessive deafness. Usher syndrome is characterized by hearing loss, retinitis pigmentosa, and sometimes vestibular dysfunction. Non-syndromic autosomal recessive deafness is characterized by prelingual, severe to profound hearing loss.

See also

• Cadherin
• Usher syndrome
• Deafness

References

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External links

• NCBI Gene
• Genetics Home Reference