4930542A03Rik antikoerper, USH1D antikoerper, ahl antikoerper, ahl1 antikoerper, bob antikoerper, bus antikoerper, mdfw antikoerper, nmf112 antikoerper, nmf181 antikoerper, nmf252 antikoerper, sals antikoerper, v antikoerper, CDHR23 antikoerper, W antikoerper, cadherin 23 (otocadherin) antikoerper, cadherin related 23 antikoerper, cadherin-related 23 antikoerper, Cdh23 antikoerper, CDH23 antikoerper
Hintergrund
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.