Recombinant Human Cadherin-23 (CDH23), Truncated

Uniprot Id

Q9H251

Target Species

Human

Target Name

CDH23

Target Full Name

Cadherin-23

Target Function

Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.

Target Involvement

Usher syndrome 1D (USH1D); Usher syndrome 1D/F (USH1DF); Deafness, autosomal recessive, 12 (DFNB12); Pituitary adenoma 5, multiple types (PITA5)

Target Subcellular Location

Cell membrane; Single-pass type I membrane protein.

Target Tissue Specificity

Particularly strong expression in the retina. Found also in the cochlea.

Target Synonyms

CDH23; KIAA1774; KIAA1812; UNQ1894/PRO4340Cadherin-23; Otocadherin

Target Background

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.