Peptide sequence: DHQGVITRKV NIQVGDVNDN APTFHNQPYS VRIPENTPVG TPIFIVNATD
Sequence homology: Cow: 100%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Cadherin; cadherin 23; Cadherin-23; cadherin-like 23; cadherin-related family member 23; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; MGC102761; Otocadherin; OTTHUMP00000044780; USH1H
Gene Aliases: CDH23; CDHR23; KIAA1774; KIAA1812; UNQ1894/PRO4340; USH1D
UniProt ID: (Human) Q9H251
Entrez Gene ID: (Human) 64072
Molecular Function: cadherin