靶标:
Cdh23
产品别名:
4930542A03Rik; USH1D; ahl; ahl1; bob; bus; mdfw; nmf112; nmf181; nmf252; sals; v; Cdh23; cadherin 23 (otocadherin); cadherin 23 (otocadherin); cadherin-23; age related hearing loss 1; bobby; bustling; modifier of deaf waddler; otocadherin; waltzer; 钙粘蛋白23; 钙黏蛋白23(CDH23);
背景信息:
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],