Analysis of CDH23 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2075-LGZ)

Introduction

Official Full Name: cadherin related 23<br />Also known as: PITA5; USH1D; CDHR23<br />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 the organization of cilia and the formation of hair bundles. This gene is located in a region that includes the human deafness genes DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations in this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described.