DISEASES

Disease-gene associations mined from literature

Literature associating CDH23 and enlarged vestibular aqueduct

CDH23 [ENSP00000381768]

Cadherin-related 23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Synonyms:  CDH23,  CDH23p,  hCDH23,  LOC100653137,  CDH23-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM