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{{PBB|geneid=64072}}
{{PBB|geneid=64072}}
'''Cadherin-23''' is a [[protein]] that in humans is encoded by the ''CDH23'' [[gene]].<ref>{{cite journal |last1=Gal |first1=Andreas |last2=Bolz |first2=Hanno |last3=Von Brederlow |first3=Benigna |last4=Ramírez |first4=Alfredo |last5=Bryda |first5=Elizabeth C. |last6=Kutsche |first6=Kerstin |last7=Nothwang |first7=Hans Gerd |last8=Seeliger |first8=Mathias |last9=Cabrera |first9=Maria del C.-Salcedó |last10=Vila |first10=Manuel Caballeró |last11=Molina |first11=Orfilio Pelaez |last12=Kubisch |first12=Christian |title=Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D |journal=Nature Genetics |volume=27 |issue=1 |pages=108–12 |year=2001 |pmid=11138009 |doi=10.1038/83667|display-authors=8 }}</ref><ref name="pmid11090341">{{cite journal |last1=Bork |first1=J |last2=Peters |first2=L |last3=Riazuddin |first3=S |last4=Bernstein |first4=S |last5=Ahmed |first5=Z |last6=Ness |first6=S |last7=Polomeno |first7=R |last8=Ramesh |first8=A |last9=Schloss |first9=M |last10=Srisailpathy |first10=C. R. Srikumari |last11=Wayne |first11=Sigrid |last12=Bellman |first12=Susan |last13=Desmukh |first13=Dilip |last14=Ahmed |first14=Zahoor |last15=Khan |first15=Shaheen N. |last16=Kaloustian |first16=Vazken M. Der |last17=Li |first17=X. Cindy |last18=Lalwani |first18=Anil |last19=Riazuddin |first19=Sheikh |last20=Bitner-Glindzicz |first20=Maria |last21=Nance |first21=Walter E. |last22=Liu |first22=Xue-Zhong |last23=Wistow |first23=Graeme |last24=Smith |first24=Richard J.H. |last25=Griffith |first25=Andrew J. |last26=Wilcox |first26=Edward R. |last27=Friedman |first27=Thomas B. |last28=Morell |first28=Robert J. |title=Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23 |journal=The American Journal of Human Genetics |volume=68 |issue=1 |pages=26–37 |year=2001 |doi=10.1086/316954 |pmid=11090341 |pmc=1234923}}</ref><ref name="entrez" />
'''Cadherin-23''' is a [[protein]] that in humans is encoded by the ''CDH23'' [[gene]].<ref>{{cite journal | author = Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C | title = Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 108–12 | year = 2001 | pmid = 11138009 | doi = 10.1038/83667 | display-authors = 8 }}</ref><ref name="pmid11090341">{{cite journal | author = Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ | title = Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23 | journal = The American Journal of Human Genetics | volume = 68 | issue = 1 | pages = 26–37 | year = 2001 | pmid = 11090341 | pmc = 1234923 | doi = 10.1086/316954 }}</ref><ref name="entrez" />


== Function ==
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title =
⚫
| summary_text = This gene is a member of the [[cadherin]] superfamily, genes encoding [[calcium]] dependent cell-cell adhesion [[glycoprotein]]s. 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. Specifically, it is thought to interact with [[protocadherin 15]] to form [[tip-link]] filaments.<ref>{{cite journal |last1=Kazmierczak |first1=Piotr |last2=Sakaguchi |first2=Hirofumi |last3=Tokita |first3=Joshua |last4=Wilson-Kubalek |first4=Elizabeth M. |last5=Milligan |first5=Ronald A. |last6=Müller |first6=Ulrich |last7=Kachar |first7=Bechara |title=Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells |journal=Nature |volume=449 |issue=7158 |pages=87–91 |year=2007 |pmid=17805295 |doi=10.1038/nature06091}}</ref> The gene is located in a region containing the human {{SWL|type=mutation_results_in|target=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. Additional variants have been observed but their full-length nature has not been determined.<ref name="entrez">{{EntrezGene|64072}}</ref><ref>{{Cite pmid|24767429}}</ref>
}}


⚫
This gene is a member of the [[cadherin]] superfamily, genes encoding [[calcium]] dependent cell-cell adhesion [[glycoprotein]]s. 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. Specifically, it is thought to interact with [[protocadherin 15]] to form [[tip-link]] filaments.<ref>{{cite journal | author = Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B | title = Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells | journal = Nature | volume = 449 | issue = 7158 | pages = 87–91 | year = 2007 | pmid = 17805295 | doi = 10.1038/nature06091 }}</ref>
⚫
==Interactions==
⚫
CDH23 has been shown to [[Protein-protein interaction|interact]] with [[USH1C]].<ref name=pmid12485990>{{cite journal| displayauthors = 8 |last1=Boeda |first1=B. |last2=El-Amraoui |first2=A |last3=Bahloul |first3=A |last4=Goodyear |first4=R |last5=Daviet |first5=L |last6=Blanchard |first6=S |last7=Perfettini |first7=I |last8=Fath |first8=KR |last9=Shorte |first9=S |title=Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle |journal=The EMBO Journal |volume=21 |issue=24 |pages=6689–99 |year=2002 |pmid=12485990 |pmc=139109 |doi=10.1093/emboj/cdf689}}</ref><ref name=pmid12407180>{{cite journal |last1=Siemens |first1=J. |title=The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions |journal=Proceedings of the National Academy of Sciences |volume=99 |pages=14946–51 |year=2002 |doi=10.1073/pnas.232579599 |pmid=12407180 |pmc=137525}}</ref>


== Clinical significance ==
⚫
==References==
⚫
{{reflist}}


The gene is located in a region containing the human {{SWL|type=mutation_results_in|target=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.<ref name="entrez">{{EntrezGene|64072}}</ref><ref>{{cite journal | author = Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK | title = Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing | journal = BMC Medical Genetics | volume = 15 | issue = 1 | pages = 46 | year = 2014 | pmid = 24767429 | pmc = 4036425 | doi = 10.1186/1471-2350-15-46 }}</ref>
==External links==
*{{cite book |first1=Bronya J B |last1=Pagon |first2=Thomas D |last2=Bird |editor1-first=Roberta A |first3=Cynthia R |last3=Dolan |first4=Karen |last4=Stephens |year=1999 |chapter=Usher Syndrome Type I |chapterurl=http://www.ncbi.nlm.nih.gov/books/NBK1265/ |pmid=20301442 |editor1-last=Pagon |editor2-first=Thomas D |editor2-last=Bird |editor3-first=Cynthia R |editor3-last=Dolan |editor4-first=Karen |editor4-last=Stephens | displayeditors = 3|title=GeneReviews}}


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== Interactions ==
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==Further reading==
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{{refbegin | 2}}
{{PBB_Further_reading
| citations =
⚫
*{{cite journal |last1=McHugh |first1=Richard K. |last2=Friedman |first2=Rick A. |title=Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum |journal=The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology |volume=288A |pages=370–81 |year=2006 |doi=10.1002/ar.a.20297 |pmid=16550584}}
⚫
*{{cite journal |last1=Marres |first1=HA |last2=Cremers |first2=CW |title=Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers |journal=Archives of otolaryngology--head & neck surgery |volume=115 |issue=5 |pages=591–5 |year=1989 |pmid=2706105}}
⚫
*{{cite journal |last1=Chaib |first1=H |last2=Place |first2=C |last3=Salem |first3=N |last4=Dodé |first4=C |last5=Chardenoux |first5=S |last6=Weissenbach |first6=J |last7=El Zir |first7=E |last8=Loiselet |first8=J |last9=Petit |first9=C | displayauthors = 9|title=Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22 |journal=Human Molecular Genetics |volume=5 |issue=7 |pages=1061–4 |year=1996 |pmid=8817348 |doi=10.1093/hmg/5.7.1061}}
⚫
*{{cite journal |last1=Bonaldo |first1=M F |last2=Lennon |first2=G |last3=Soares |first3=M B |title=Normalization and subtraction: two approaches to facilitate gene discovery |journal=Genome Research |volume=6 |issue=9 |pages=791–806 |year=1996 |pmid=8889548 |doi=10.1101/gr.6.9.791}}
⚫
*{{cite journal |last1=Wayne |first1=S |last2=Der Kaloustian |first2=VM |last3=Schloss |first3=M |last4=Polomeno |first4=R |last5=Scott |first5=DA |last6=Hejtmancik |first6=JF |last7=Sheffield |first7=VC |last8=Smith |first8=RJ |title=Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10 |journal=Human Molecular Genetics |volume=5 |issue=10 |pages=1689–92 |year=1996 |pmid=8894709 |doi=10.1093/hmg/5.10.1689}}
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*{{cite journal |last1=Noben-Trauth |first1=Konrad |last2=Palma |first2=Federica Di |last3=Holme |first3=Ralph H. |last4=Bryda |first4=Elizabeth C. |last5=Belyantseva |first5=Inna A. |last6=Pellegrino |first6=Richard |last7=Kachar |first7=Bechara |last8=Steel |first8=Karen P. |title=Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D |journal=Nature Genetics |volume=27 |issue=1 |pages=103–7 |year=2001 |pmid=11138008 |doi=10.1038/83660}}
⚫
*{{cite journal |last1=Nagase |first1=T. |last2=Nakayama |first2=M |last3=Nakajima |first3=D |last4=Kikuno |first4=R |last5=Ohara |first5=O |title=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 |journal=DNA Research |volume=8 |issue=2 |pages=85–95 |year=2001 |pmid=11347906 |doi=10.1093/dnares/8.2.85}}
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*{{cite journal |last1=Wilson |first1=Scott M. |last2=Householder |first2=Deborah B. |last3=Coppola |first3=Vincenzo |last4=Tessarollo |first4=Lino |last5=Fritzsch |first5=Bernd |last6=Lee |first6=E-Chiang |last7=Goss |first7=Dee |last8=Carlson |first8=George A. |last9=Copeland |first9=Neal G. | displayauthors = 8|title=Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice |journal=Genomics |volume=74 |issue=2 |pages=228–33 |year=2001 |pmid=11386759 |doi=10.1006/geno.2001.6554}}
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*{{cite journal |last1=Nakajima |first1=D |last2=Nakayama |first2=M |last3=Kikuno |first3=R |last4=Hirosawa |first4=M |last5=Nagase |first5=T |last6=Ohara |first6=O |title=Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs |journal=Molecular Brain Research |volume=94 |issue=1-2 |pages=85–95 |year=2001 |pmid=11597768 |doi=10.1016/S0169-328X(01)00218-2}}
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*{{cite journal |last1=Von Brederlow |first1=Benigna |last2=Bolz |first2=Hanno |last3=Janecke |first3=Andreas |last4=La O Cabrera |first4=Alicia |last5=Rudolph |first5=Günther |last6=Lorenz |first6=Birgit |last7=Schwinger |first7=Eberhard |last8=Gal |first8=Andreas |title=Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D |journal=Human Mutation |volume=19 |issue=3 |pages=268–73 |year=2002 |pmid=11857743 |doi=10.1002/humu.10049}}
⚫
*{{cite journal| displayauthors = 8 |last1=Astuto |first1=L |last2=Bork |first2=J |last3=Weston |first3=M |last4=Askew |first4=J |last5=Fields |first5=R |last6=Orten |first6=D |last7=Ohliger |first7=S |last8=Riazuddin |first8=S |last9=Morell |first9=R |title=CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness |journal=The American Journal of Human Genetics |volume=71 |pages=262–75 |year=2002 |doi=10.1086/341558}}
⚫
*{{cite journal |last1=Siemens |first1=J. |title=The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions |journal=Proceedings of the National Academy of Sciences |volume=99 |pages=14946–51 |year=2002 |doi=10.1073/pnas.232579599 |pmid=12407180 |pmc=137525}}
*{{cite journal |last1=Mammalian Gene Collection Program Team* |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proceedings of the National Academy of Sciences |volume=99 |pages=16899–903 |year=2002 |doi=10.1073/pnas.242603899 |pmid=12477932 |pmc=139241}}
*{{cite journal |pages=156–63 |doi=10.1007/s00439-002-0833-0 | pmid=12522556 | volume=112 |issue=2 |title=Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family |date=February 2003 |journal=Hum. Genet.}}
⚫
*{{cite journal | displayauthors = 8|last1=Weil |first1=D. |last2=El-Amraoui |first2=A |last3=Masmoudi |first3=S |last4=Mustapha |first4=M |last5=Kikkawa |first5=Y |last6=Lainé |first6=S |last7=Delmaghani |first7=S |last8=Adato |first8=A |last9=Nadifi |first9=S |title=Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin |journal=Human Molecular Genetics |volume=12 |issue=5 |pages=463–71 |year=2003 |pmid=12588794 |doi=10.1093/hmg/ddg051}}
*{{cite journal | displayauthors = 8|last1=Clark |first1=H. F. |last2=Gurney |first2=AL |last3=Abaya |first3=E |last4=Baker |first4=K |last5=Baldwin |first5=D |last6=Brush |first6=J |last7=Chen |first7=J |last8=Chow |first8=B |last9=Chui |first9=C |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Research |volume=13 |issue=10 |pages=2265–70 |year=2003 |pmid=12975309 |pmc=403697 |doi=10.1101/gr.1293003}}
*{{cite journal | displayauthors = 8|last1=Ota |first1=Toshio |last2=Suzuki |first2=Yutaka |last3=Nishikawa |first3=Tetsuo |last4=Otsuki |first4=Tetsuji |last5=Sugiyama |first5=Tomoyasu |last6=Irie |first6=Ryotaro |last7=Wakamatsu |first7=Ai |last8=Hayashi |first8=Koji |last9=Sato |first9=Hiroyuki |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nature Genetics |volume=36 |issue=1 |pages=40–5 |year=2003 |pmid=14702039 |doi=10.1038/ng1285}}
}}
⚫
{{refend}}


⚫
CDH23 has been shown to [[Protein-protein interaction|interact]] with [[USH1C]].<ref name=pmid12485990>{{cite journal | author = Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C | title = Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle | journal = The EMBO Journal | volume = 21 | issue = 24 | pages = 6689–99 | year = 2002 | pmid = 12485990 | pmc = 139109 | doi = 10.1093/emboj/cdf689 | displayauthors = 8 }}</ref><ref name=pmid12407180>{{cite journal | author = Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U | title = The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions | journal = Proceedings of the National Academy of Sciences | volume = 99 | pages = 14946–51 | year = 2002 | pmid = 12407180 | pmc = 137525 | doi = 10.1073/pnas.232579599 }}</ref>
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
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== References ==
⚫
{{reflist}}
{{-}}
⚫
== Further reading ==
⚫
{{refbegin | 2}}
⚫
*{{cite journal | author = McHugh RK, Friedman RA | title = Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum | journal = The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology | volume = 288A | pages = 370–81 | year = 2006 | pmid = 16550584 | doi = 10.1002/ar.a.20297 }}
⚫
*{{cite journal | author = Marres HA, Cremers CW | title = Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers | journal = Archives of otolaryngology--head & neck surgery | volume = 115 | issue = 5 | pages = 591–5 | year = 1989 | pmid = 2706105 }}
⚫
*{{cite journal | author = Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C | title = Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22 | journal = Human Molecular Genetics | volume = 5 | issue = 7 | pages = 1061–4 | year = 1996 | pmid = 8817348 | doi = 10.1093/hmg/5.7.1061 | displayauthors = 9 }}
⚫
*{{cite journal | author = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Research | volume = 6 | issue = 9 | pages = 791–806 | year = 1996 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
⚫
*{{cite journal | author = Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ | title = Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10 | journal = Human Molecular Genetics | volume = 5 | issue = 10 | pages = 1689–92 | year = 1996 | pmid = 8894709 | doi = 10.1093/hmg/5.10.1689 }}
⚫
*{{cite journal | author = Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K | title = Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D | journal = Nature Genetics | volume = 27 | issue = 1 | pages = 103–7 | year = 2001 | pmid = 11138008 | doi = 10.1038/83660 }}
⚫
*{{cite journal | author = Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O | title = 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 | journal = DNA Research | volume = 8 | issue = 2 | pages = 85–95 | year = 2001 | pmid = 11347906 | doi = 10.1093/dnares/8.2.85 }}
⚫
*{{cite journal | author = Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA | title = Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice | journal = Genomics | volume = 74 | issue = 2 | pages = 228–33 | year = 2001 | pmid = 11386759 | doi = 10.1006/geno.2001.6554 | displayauthors = 8 }}
⚫
*{{cite journal | author = Nakajima D, Nakayama M, Kikuno R, Hirosawa M, Nagase T, Ohara O | title = Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs | journal = Molecular Brain Research | volume = 94 | issue = 1-2 | pages = 85–95 | year = 2001 | pmid = 11597768 | doi = 10.1016/S0169-328X(01)00218-2 }}
⚫
*{{cite journal | author = von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A | title = Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D | journal = Human Mutation | volume = 19 | issue = 3 | pages = 268–73 | year = 2002 | pmid = 11857743 | doi = 10.1002/humu.10049 }}
⚫
*{{cite journal | author = Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ | title = CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness | journal = The American Journal of Human Genetics | volume = 71 | pages = 262–75 | year = 2002 | pmid = 12075507 | doi = 10.1086/341558 | displayauthors = 8 }}
⚫
*{{cite journal | author = Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U | title = The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions | journal = Proceedings of the National Academy of Sciences | volume = 99 | pages = 14946–51 | year = 2002 | pmid = 12407180 | pmc = 137525 | doi = 10.1073/pnas.232579599 }}
*{{cite journal | author = de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H | title = Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family | journal = Hum. Genet. | volume = 112 | issue = 2 | pages = 156–63 | date = February 2003 | pmid = 12522556 | doi = 10.1007/s00439-002-0833-0 }}
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*{{cite journal | author = Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C | title = Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin | journal = Human Molecular Genetics | volume = 12 | issue = 5 | pages = 463–71 | year = 2003 | pmid = 12588794 | doi = 10.1093/hmg/ddg051 | displayauthors = 8 }}
⚫
{{refend}}


{{gene-10-stub}}
{{gene-10-stub}}

Revision as of 06:22, 24 November 2014

Template:PBB Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.[1][2][3]

Function

This gene 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. Specifically, it is thought to interact with protocadherin 15 to form tip-link filaments.[4]

Clinical significance

The gene is located in a region containing the human Template:SWL loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this novel cadherin-like gene.[3][5]

Interactions

CDH23 has been shown to interact with USH1C.[6][7]

References

  1. ^ Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001). "Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D". Nature Genetics. 27 (1): 108–12. doi:10.1038/83667. PMID 11138009. {{cite journal}}: Invalid |display-authors=8 (help)CS1 maint: multiple names: authors list (link)
  2. ^ Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001). "Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23". The American Journal of Human Genetics. 68 (1): 26–37. doi:10.1086/316954. PMC 1234923. PMID 11090341.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ^ a b EntrezGene 64072
  4. ^ Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells". Nature. 449 (7158): 87–91. doi:10.1038/nature06091. PMID 17805295.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. ^ Woo HM, Park HJ, Park MH, Kim BY, Shin JW, Yoo WG, Koo SK (2014). "Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing". BMC Medical Genetics. 15 (1): 46. doi:10.1186/1471-2350-15-46. PMC 4036425. PMID 24767429.{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
  6. ^ Boëda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002). "Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle". The EMBO Journal. 21 (24): 6689–99. doi:10.1093/emboj/cdf689. PMC 139109. PMID 12485990. {{cite journal}}: Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help)CS1 maint: multiple names: authors list (link)
  7. ^ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99: 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Further reading

  • McHugh RK, Friedman RA (2006). "Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum". The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology. 288A: 370–81. doi:10.1002/ar.a.20297. PMID 16550584.
  • Marres HA, Cremers CW (1989). "Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers". Archives of otolaryngology--head & neck surgery. 115 (5): 591–5. PMID 2706105.
  • Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C (1996). "Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22". Human Molecular Genetics. 5 (7): 1061–4. doi:10.1093/hmg/5.7.1061. PMID 8817348. {{cite journal}}: Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help)CS1 maint: multiple names: authors list (link)
  • Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Wayne S, Der Kaloustian VM, Schloss M, Polomeno R, Scott DA, Hejtmancik JF, Sheffield VC, Smith RJ (1996). "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10". Human Molecular Genetics. 5 (10): 1689–92. doi:10.1093/hmg/5.10.1689. PMID 8894709.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Di Palma F, Holme RH, Bryda EC, Belyantseva IA, Pellegrino R, Kachar B, Steel KP, Noben-Trauth K (2001). "Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D". Nature Genetics. 27 (1): 103–7. doi:10.1038/83660. PMID 11138008.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "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 Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Wilson SM, Householder DB, Coppola V, Tessarollo L, Fritzsch B, Lee EC, Goss D, Carlson GA, Copeland NG, Jenkins NA (2001). "Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice". Genomics. 74 (2): 228–33. doi:10.1006/geno.2001.6554. PMID 11386759. {{cite journal}}: Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help)CS1 maint: multiple names: authors list (link)
  • Nakajima D, Nakayama M, Kikuno R, Hirosawa M, Nagase T, Ohara O (2001). "Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs". Molecular Brain Research. 94 (1–2): 85–95. doi:10.1016/S0169-328X(01)00218-2. PMID 11597768.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E, Gal A (2002). "Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D". Human Mutation. 19 (3): 268–73. doi:10.1002/humu.10049. PMID 11857743.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CW, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ (2002). "CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness". The American Journal of Human Genetics. 71: 262–75. doi:10.1086/341558. PMID 12075507. {{cite journal}}: Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help)CS1 maint: multiple names: authors list (link)
  • Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Müller U (2002). "The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions". Proceedings of the National Academy of Sciences. 99: 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H (February 2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID 12522556.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  • Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Human Molecular Genetics. 12 (5): 463–71. doi:10.1093/hmg/ddg051. PMID 12588794. {{cite journal}}: Unknown parameter |displayauthors= ignored (|display-authors= suggested) (help)CS1 maint: multiple names: authors list (link)
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