基因名称：CDH23 （cadherin related 23）
别名： PITA5,USH1D,CDHR23
基因ID：64072
Chromosome(GRCh37) ：10 Start: 73156691 End: 73575704 Strand:
信号通路：
靶向药：
化疗药：
简介：该基因是钙粘蛋白超家族的成员，其基因编码钙依赖性细胞粘附糖蛋白。编码蛋白被认为参与了体视纤毛的组织和毛束的形成。该基因位于含有人类耳聋基因DFNB12和USH1D的区域，Usher综合征1D和非综合征常染色体隐性耳聋DFNB12是由该类钙黏蛋白基因的等位基因突变引起的。这种基因的上调也可能与乳腺癌有关。已经描述了编码不同亚型的选择性剪接变体。[由RefSeq提供，2013年5月]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]
CDH23突变与药物：
