4930542A03Rik antibody, USH1D antibody, ahl antibody, ahl1 antibody, bob antibody, bus antibody, mdfw antibody, nmf112 antibody, nmf181 antibody, nmf252 antibody, sals antibody, v antibody, CDHR23 antibody, W antibody, cadherin 23 (otocadherin) antibody, cadherin related 23 antibody, cadherin-related 23 antibody, Cdh23 antibody, CDH23 antibody
背景
Cadherin like 23 (or Cadherin 23) is, like other members of the cadherin family, a calcium-dependent cell adhesion glycoprotein that preferentially interacts with itself in connecting cells. It is a single pass type I membrane protein that contains 27 cadherin domains. Cadherin like 23 is expressed in the neurosensory epithelium, where it is thought to be involved in stereocilia organisation and hair bundle formation. Defects in the gene encoding Cadherin like 23 are a cause of Usher syndrome, which is characterised by profound congenital sensorineural deafness and eventual blindness. Mutations in this gene are also a cause of non-syndromic sensorineural deafness autosomal recessive type 12 (DFNB12). Cadherin like 23 has also been associated with age-related hearing loss.Synonyms: CDH23, KIAA1774, KIAA1812