CDH23(redirected from CDHR23)
Notation for the Usher type 1D syndrome gene.
Farlex Partner Medical Dictionary © Farlex 2012
CDH23A gene on chromosome 10q22.1 that encodes a calcium-dependent cell adhesion protein (cadherin) required for normal hearing, and which is part of the functional network formed with USH1C, USH1G and MYO7A which mediates mechanotransduction in cochlear hair cells. CDH23 is involved in establishing and/or maintaining the proper organisation of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development.
Defects of CDH23 cause Usher syndrome, types 1D and 1D/F, and deafness autosomal recessive type 12.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.