cadherin-23; otocadherin (CDH23, KIAA1774, KIAA1812, UNQ1894/PRO4340)

Function

• cadherin 23 may function as hair bundle organizer perhaps by cross-linking the stereocilia

Structure

contains 27 cadherin domains

Compartment

cell membrane

Alternative splicing

named isoforms=6 Additional isoforms seem to exist

Expression

• particularly strong expression in the retina
• found also in the cochlea Pathology:
• defects in CDH23 are the cause of
  • Usher syndrome type 1D
  • non-syndromic sensorineural deafness, autosomal recessive, type 12 (DFNB12)

More general terms

• cadherin
• glycoprotein
• phosphoprotein

Database

• OMIM: https://mirror.omim.org/entry/276900
• OMIM: https://mirror.omim.org/entry/601067
• OMIM: https://mirror.omim.org/entry/601386
• OMIM: https://mirror.omim.org/entry/605516
• UniProt: http://www.uniprot.org/uniprot/Q9H251.html