{"symbol":"CDH23","synonyms":["USH1D","PITA5","CDHR23"],"name":"cadherin-related 23","description":"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]","ncbiEntrezGeneId":64072,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/64072","proteins":[{"symbol":"CAD23_HUMAN","href":"/api/1.0/protein/CAD23_HUMAN"}],"hgncRootFamilies":[{"name":"Cadherins","href":"/api/1.0/gene_family/Cadherins"}]}