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. [provided by RefSeq, Jan 2010].
Apostolopoulou, Ligon: "Cadherin-23 mediates heterotypic cell-cell adhesion between breast cancer epithelial cells and fibroblasts." in: PLoS ONE, Vol. 7, Issue 3, pp. e33289, (2012) (PubMed).
Roux, Faugère, Le Guédard, Pallares-Ruiz, Vielle, Chambert, Marlin, Hamel, Gilbert, Malcolm, Claustres: "Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%." in: Journal of medical genetics, Vol. 43, Issue 9, pp. 763-8, (2006) (PubMed).
Aliases for CDH23 抗体
cadherin 23 (otocadherin) (Cdh23) 抗体 cadherin related 23 (CDH23) 抗体 cadherin-related 23 (Cdh23) 抗体 4930542A03Rik 抗体 ahl 抗体 ahl1 抗体 bob 抗体 bus 抗体 CDHR23 抗体 mdfw 抗体 nmf112 抗体 nmf181 抗体 nmf252 抗体 sals 抗体 USH1D 抗体 v 抗体 W 抗体