Entrez gene ID | | 64072 |
Official gene symbol | | CDH23 |
Full name | | cadherin-related 23 |
Aliases | | ,CDHR23,DKFZp434P2350,FLJ00233,FLJ36499,KIAA1774,KIAA1812,MGC102761,USH1D, |
Gene 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. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq] |
Location | | Chromosome: 10 Locus: 10q21-q22 |
Gene position | | 73156691 - 73575704 Map Viewer |
Gene orientation | | plus |
Gene size | | 419014 bp |
Gene sequence |
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OMIM ID | | 605516 |
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