protocadherin-15 (PCDH15)

Function

• Ca+2-dependent cell-adhesion protein
• essential for maintenance of normal retinal & cochlear function

Structure

contains 11 cadherin domains

Compartment

• cell membrane
• single-pass type 1 membrane protein (putative)
• isoform 3: secreted

Alternative splicing

named isoforms=3

Expression

• expressed in brain, lung, kidney, spleen & testis
• found in inner & outer synaptic layers, & the nerve fiber layer in adult & fetal retinas
• found in the supporting cells, outer sulcus cells & spiral ganglion of fetal cochlea
• expressed in cytotoxic tumor-derived T- & NK-cell lines as well as biopsies of nasal NK/T-cell lymphomas
• not detected in normal or in vitro activated peripheral blood cells, CD4 or CD8 lymphocytes or NK cells

Pathology

• defects in PCDH15 are the cause of
  • Usher syndrome type 1F
  • deafness autosomal recessive type 23
• defects in PCDH15 are a cause of Usher syndrome type 1DF

More general terms

• protocadherin (PCDH)

Additional terms

• cadherin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=65217
• OMIM: https://mirror.omim.org/entry/276900
• OMIM: https://mirror.omim.org/entry/601067
• OMIM: https://mirror.omim.org/entry/602083
• OMIM: https://mirror.omim.org/entry/605514
• OMIM: https://mirror.omim.org/entry/609533
• UniProt: http://www.uniprot.org/uniprot/Q96QU1.html