CDH23, Official Symbol CDH23provided by HGNC Official Full Name cadherin related 23provided by HGNC Primary source HGNC:HGNC:13733 See related Ensembl:ENSG00000107736 MIM:605516; AllianceGenome:HGNC:13733 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PITA5; USH1D; CDHR23 Summary 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] Expression Broad expression in ovary (RPKM 4.2), fat (RPKM 2.9) and 18 other tissues See more Orthologs mouse all