CDH23

CDH23

Notation for the Usher type 1D syndrome gene.

CDH23

A 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.

Molecular pathology
Defects of CDH23 cause Usher syndrome, types 1D and 1D/F, and deafness autosomal recessive type 12.
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References in periodicals archive ?
2] for cg26542660 and ILMN_1693766; on the body of CDH23, p = 9.
In the present study, the smoking-related methylat ion changes to RUNX3, IL6R, PTAFR, and ANKRD11 (cardiovascular-related genes) and CEP135 and CDH23 (cancer-related genes) corresponded to increased gene expression.
Genome-wide analysis of DNA methylation and cigarette smoking in a Chinese population
2 MY015 Prelingual Stable DFNB4/7q31 PDS Prelingual Stable DFNB5/14g12 -- Prelingual Stable DFNB6/3p14-21 TMIE Prelingual Stable DFNB7/9q13-21 TMC1 Prelingual Stable DFNB8/21q22 TMPRSS3 Postlingual/2nd Progressive DFNB9/2p22-23 OTOF Prelingual Stable DFNB10/21q22 -- Prelingual Stable DFNB11/9g13-21 -- Prelingual Stable DFNB12/10q21-22 CDH23 Prelingual Stable DFNB13/7q34-36 -- Prelingual Progressive DFNB14/7q31 -- -- -- DFNB15/3q21-25,19q13 Prelingual Stable DFNB16/15q21-22 STRC Prelingual Stable DFNB17/7q31 -- Prelingual Stable DFNB18/11p14-15 USH1c Prelingual Stable DFNB19/18q11 -- Prelingual Stable DFNB20/11q25 -- -- -- DFN821/11q TECTA -- -- DFNB22/Reserved OTOA -- -- DFNB23/Reserved DFNB24/Reserved DFNB25/Reserved Adapted from Van Camp & Smith (2003).
Genetics of hearing loss

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