Gene Symbol | CDH23 |
Entrez Gene ID | 64072 |
Full Name | cadherin related 23 |
Synonyms | CDHR23,PITA5,USH1D |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive 12, 601386 (3); Usher syndrome, type 1D/F digenic, 601067 (3); {Pituitary adenoma 5, multiple types}, 617540 (3) |