CDH23 Antibody

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.

CDH23, cadherin-like 23, DFNB12, DKFZp434P2350, FLJ00233, FLJ36499, KIAA1774, KIAA1812, MGC102761, USH1D, USH1H, OTTHUMP00000044780, cadherin 23, cadherin related 23, cadherin-23, otocadherin, UNQ1894/PRO4340