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 Pituitary Adenoma 5, Multiple Types and Deafness, Autosomal Recessive 12. Among its related pathways are G12-G13 in Cellular Signaling and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH11X.
UniProtKB/Swiss-Prot Summary 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.