Your search for "cdh23" returned 1,596 TaqMan® SNP Genotyping Assays
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]
4930542A03RIK, AHL, AHL1, BOB, BUS, CDH23, CDHR23, MDFW, NMF112, NMF181, NMF252, SALS, USH1D, V, W
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