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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.
4930542A03Rik; age related hearing loss 1; ahl; ahl1; bob; bobby; bus; bustling; Cadherin; cadherin 23; cadherin 23 (otocadherin); cadherin related 23; cadherin-23; cadherin-like 23; cadherin-related 23; cadherin-related family member 23; Cdh23; CDHR23; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; mdfw; MGC102761; modifier of deaf waddler; nmf112; nmf181; nmf252; otocadherin; OTTHUMP00000044780; sals; UNQ1894/PRO4340; USH1D; USH1H; v; W; waltzer; Waltzing
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