4930542A03Rik antibody, USH1D antibody, ahl antibody, ahl1 antibody, bob antibody, bus antibody, mdfw antibody, nmf112 antibody, nmf181 antibody, nmf252 antibody, sals antibody, v antibody, CDHR23 antibody, W antibody, cadherin 23 (otocadherin) antibody, cadherin related 23 antibody, cadherin-related 23 antibody, Cdh23 antibody, CDH23 antibody
背景
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. Alternative splice variants encoding different isoforms have been described.