Cadherin 23 (CDH23)

DFNB12; USH1D; CDHR23; Otocadherin; Cadherin-Related Family Member 23

SPN	Q383
HGNC	13733
MGI	1890219
PubMed	21940737
RGD	619760
UniProt	Q9H251
Wiki	CDH23

Cadherin-23 is a member of the cadherin superfamily, genes encoding calcium dependent cell-cell adhesion glycoproteins. The protein encoded by this gene is a large, single-pass transmembrane protein composed of an extracellular domain containing 27 repeats that show significant homology to the cadherin ectodomain. Expressed in the neurosensory epithelium, the 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 novel cadherin-like gene. Two alternative splice variants have been identified, encoding different isoforms.

Reference

"Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D."
Nat. Genet. 27:108-112(2001) [PubMed] [Europe PMC] [Abstract]

"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]

"Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development."
Dev. Biol. 280:295-306(2005) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 10."
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]

"Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23."
Am. J. Hum. Genet. 68:26-37(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs."
Brain Res. Mol. Brain Res. 94:85-95(2001) [PubMed] [Europe PMC] [Abstract]

"Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia."
Proc. Natl. Acad. Sci. U.S.A. 108:5825-5830(2011) [PubMed] [Europe PMC] [Abstract]

"Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23."
Proc. Natl. Acad. Sci. U.S.A. 106:5575-5580(2009) [PubMed] [Europe PMC] [Abstract]

"CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness."
Am. J. Hum. Genet. 71:262-275(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family."
Hum. Genet. 112:156-163(2003) [PubMed] [Europe PMC] [Abstract]

"Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."
Hum. Genet. 116:292-299(2005) [PubMed] [Europe PMC] [Abstract]

"Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans."
Hum. Mol. Genet. 14:103-111(2005) [PubMed] [Europe PMC] [Abstract]

"Modification of human hearing loss by plasma-membrane calcium pump PMCA2."
N. Engl. J. Med. 352:1557-1564(2005) [PubMed] [Europe PMC] [Abstract]

Erratum
N. Engl. J. Med. 352:2362-2362(2005)

"Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%."
J. Med. Genet. 43:763-768(2006) [PubMed] [Europe PMC] [Abstract]

"Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss."
Clin. Genet. 72:339-344(2007) [PubMed] [Europe PMC] [Abstract]

"Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I."
Hum. Mutat. 29:E37-E46(2008) [PubMed] [Europe PMC] [Abstract]

"Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study."
PLoS ONE 7:E40366-E40366(2012) [PubMed] [Europe PMC] [Abstract]

"Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing."
BMC Med. Genet. 15:46-46(2014) [PubMed] [Europe PMC] [Abstract]

"New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11."
Hum. Mol. Genet. 23:5774-5780(2014) [PubMed] [Europe PMC] [Abstract]