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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD