Aliases for CDH23 Gene
External Ids for CDH23 Gene
Previous HGNC Symbols for CDH23 Gene
Previous GeneCards Identifiers for CDH23 Gene
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
GeneCards Summary for CDH23 Gene
CDH23 (Cadherin Related 23) is a Protein Coding gene. Diseases associated with CDH23 include Deafness, Autosomal Recessive 12 and Pituitary Adenoma 5, Multiple Types. Among its related pathways are ERK Signaling and S-1P Stimulated Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FAT4.
UniProtKB/Swiss-Prot for CDH23 Gene
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.