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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.
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Protein Aliases: age related hearing loss 1; bobby; bustling; Cadherin; cadherin 23; cadherin 23 (otocadherin); cadherin related 23; Cadherin-23; cadherin-like 23; cadherin-related family member 23; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; MGC102761; modifier of deaf waddler; Otocadherin; OTTHUMP00000044780; USH1H; waltzer; Waltzing
Gene Aliases: 4930542A03Rik; ahl; ahl1; bob; bus; CDH23; CDHR23; KIAA1774; KIAA1812; mdfw; nmf112; nmf181; nmf252; sals; UNQ1894/PRO4340; USH1D; v; W
UniProt ID: (Human) Q9H251, (Mouse) Q99PF4, (Rat) P58365
Entrez Gene ID: (Human) 64072, (Mouse) 22295, (Rat) 114102
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