基因名:
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:
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.