CDH23

CDH23
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2KBR, 2KBS, 2LSR
Identifikatori
Aliasi	CDH23
Vanjski ID-jevi	OMIM: 605516 MGI: 1890219 HomoloGene: 11142 GeneCards: CDH23
Lokacija gena (čovjek)
Hrom.	Hromosom 10 (čovjek)
Kraj	71,815,947 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	60,532,269 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje iona metala; • calcium ion binding; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• ćelijska membrana; • membrana; • stereocilium; • integral component of membrane;
Biološki proces	• Čulo ravnoteže; • calcium ion transport; • homophilic cell adhesion via plasma membrane adhesion molecules; • photoreceptor cell maintenance; • inner ear receptor cell stereocilium organization; • locomotory behavior; • Vid; • sensory perception of light stimulus; • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; • response to stimulus; • regulation of cytosolic calcium ion concentration; • Ćelijska adhezija; • sluh;
	Izvori:Amigo / QuickGO
Ortolozi
	64072
	22295
	ENSG00000107736
	ENSMUSG00000012819
	Q9H251; Q6P152
	Q99PF4
NM_001171930; NM_001171931; NM_001171932; NM_001171933; NM_001171934;
	NM_001171935; NM_001171936; NM_022124; NM_052836
	NM_001252635; NM_023370
NP_001165401; NP_001165402; NP_001165403; NP_001165404; NP_001165405;
	NP_001165406; NP_001165407; NP_071407; NP_443068; NP_001165401.1; NP_071407.4
	NP_001239564; NP_075859
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kadherin-23 je protein koji je kod ljudi kodiran genom CDH23.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 3.354 aminokiseline, а molekulska težina 369.494^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MGRHVATSCH	VAWLLVLISG	CWGQVNRLPF	FTNHFFDTYL	LISEDTPVGS
SVTQLLAQDM	DNDPLVFGVS	GEEASRFFAV	EPDTGVVWLR	QPLDRETKSE
FTVEFSVSDH	QGVITRKVNI	QVGDVNDNAP	TFHNQPYSVR	IPENTPVGTP
IFIVNATDPD	LGAGGSVLYS	FQPPSQFFAI	DSARGIVTVI	RELDYETTQA
YQLTVNATDQ	DKTRPLSTLA	NLAIIITDVQ	DMDPIFINLP	YSTNIYEHSP
PGTTVRIITA	IDQDKGRPRG	IGYTIVSGNT	NSIFALDYIS	GVLTLNGLLD
RENPLYSHGF	ILTVKGTELN	DDRTPSDATV	TTTFNILVID	INDNAPEFNS
SEYSVAITEL	AQVGFALPLF	IQVVDKDENL	GLNSMFEVYL	VGNNSHHFII
SPTSVQGKAD	IRIRVAIPLD	YETVDRYDFD	LFANESVPDH	VGYAKVKITL
INENDNRPIF	SQPLYNISLY	ENVTVGTSVL	TVLATDNDAG	TFGEVSYFFS
DDPDRFSLDK	DTGLIMLIAR	LDYELIQRFT	LTIIARDGGG	EETTGRVRIN
VLDVNDNVPT	FQKDAYVGAL	RENEPSVTQL	VRLRATDEDS	PPNNQITYSI
VSASAFGSYF	DISLYEGYGV	ISVSRPLDYE	QISNGLIYLT	VMAMDAGNPP
LNSTVPVTIE	VFDENDNPPT	FSKPAYFVSV	VENIMAGATV	LFLNATDLDR
SREYGQESII	YSLEGSTQFR	INARSGEITT	TSLLDRETKS	EYILIVRAVD
GGVGHNQKTG	IATVNITLLD	INDNHPTWKD	APYYINLVEM	TPPDSDVTTV
VAVDPDLGEN	GTLVYSIQPP	NKFYSLNSTT	GKIRTTHAML	DRENPDPHEA
ELMRKIVVSV	TDCGRPPLKA	TSSATVFVNL	LDLNDNDPTF	QNLPFVAEVL
EGIPAGVSIY	QVVAIDLDEG	LNGLVSYRMP	VGMPRMDFLI	NSSSGVVVTT
TELDRERIAE	YQLRVVASDA	GTPTKSSTST	LTIHVLDVND	ETPTFFPAVY
NVSVSEDVPR	EFRVVWLNCT	DNDVGLNAEL	SYFITGGNVD	GKFSVGYRDA
VVRTVVGLDR	ETTAAYMLIL	EAIDNGPVGK	RHTGTATVFV	TVLDVNDNRP
IFLQSSYEAS	VPEDIPEGHS	ILQLKATDAD	EGEFGRVWYR	ILHGNHGNNF
RIHVSNGLLM	RGPRPLDRER	NSSHVLIVEA	YNHDLGPMRS	SVRVIVYVED
INDEAPVFTQ	QQYSRLGLRE	TAGIGTSVIV	VQATDRDSGD	GGLVNYRILS
GAEGKFEIDE	STGLIITVNY	LDYETKTSYM	MNVSATDQAP	PFNQGFCSVY
ITLLNELDEA	VQFSNASYEA	AILENLALGT	EIVRVQAYSI	DNLNQITYRF
NAYTSTQAKA	LFKIDAITGV	ITVQGLVDRE	KGDFYTLTVV	ADDGGPKVDS
TVKVYITVLD	ENDNSPRFDF	TSDSAVSIPE	DCPVGQRVAT	VKAWDPDAGS
NGQVVFSLAS	GNIAGAFEIV	TTNDSIGEVF	VARPLDREEL	DHYILQVVAS
DRGTPPRKKD	HILQVTILDI	NDNPPVIESP	FGYNVSVNEN	VGGGTAVVQV
RATDRDIGIN	SVLSYYITEG	NKDMAFRMDR	ISGEIATRPA	PPDRERQSFY
HLVATVEDEG	TPTLSATTHV	YVTIVDENDN	APMFQQPHYE	VLLDEGPDTL
NTSLITIQAL	DLDEGPNGTV	TYAIVAGNIV	NTFRIDRHMG	VITAAKELDY
EISHGRYTLI	VTATDQCPIL	SHRLTSTTTV	LVNVNDINDN	VPTFPRDYEG
PFEVTEGQPG	PRVWTFLAHD	RDSGPNGQVE	YSIMDGDPLG	EFVISPVEGV
LRVRKDVELD	RETIAFYNLT	ICARDRGMPP	LSSTMLVGIR	VLDINDNDPV
LLNLPMNITI	SENSPVSSFV	AHVLASDADS	GCNARLTFNI	TAGNRERAFF
INATTGIVTV	NRPLDRERIP	EYKLTISVKD	NPENPRIARR	DYDLLLIFLS
DENDNHPLFT	KSTYQAEVME	NSPAGTPLTV	LNGPILALDA	DQDIYAVVTY
QLLGAQSGLF	DINSSTGVVT	VRSGVIIDRE	AFSPPILELL	LLAEDIGLLN
STAHLLITIL	DDNDNRPTFS	PATLTVHLLE	NCPPGFSVLQ	VTATDEDSGL
NGELVYRIEA	GAQDRFLIHL	VTGVIRVGNA	TIDREEQESY	RLTVVATDRG
TVPLSGTAIV	TILIDDINDS	RPEFLNPIQT	VSVLESAEPG	TVIANITAID
HDLNPKLEYH	IVGIVAKDDT	DRLVPNQEDA	FAVNINTGSV	MVKSPMNREL
VATYEVTLSV	IDNASDLPER	SVSVPNAKLT	VNVLDVNDNT	PQFKPFGITY
YMERILEGAT	PGTTLIAVAA	VDPDKGLNGL	VTYTLLDLVP	PGYVQLEDSS
AGKVIANRTV	DYEEVHWLNF	TVRASDNGSP	PRAAEIPVYL	EIVDINDNNP
IFDQPSYQEA	VFEDVPVGTI	ILTVTATDAD	SGNFALIEYS	LGDGESKFAI
NPTTGDIYVL	SSLDREKKDH	YILTALAKDN	PGDVASNRRE	NSVQVVIQVL
DVNDCRPQFS	KPQFSTSVYE	NEPAGTSVIT	MMATDQDEGP	NGELTYSLEG
PGVEAFHVDM	DSGLVTTQRP	LQSYEKFSLT	VVATDGGEPP	LWGTTMLLVE
VIDVNDNRPV	FVRPPNGTIL	HIREEIPLRS	NVYEVYATDK	DEGLNGAVRY
SFLKTAGNRD	WEFFIIDPIS	GLIQTAQRLD	RESQAVYSLI	LVASDLGQPV
PYETMQPLQV	ALEDIDDNEP	LFVRPPKGSP	QYQLLTVPEH	SPRGTLVGNV
TGAVDADEGP	NAIVYYFIAA	GNEEKNFHLQ	PDGCLLVLRD	LDREREAIFS
FIVKASSNRS	WTPPRGPSPT	LDLVADLTLQ	EVRVVLEDIN	DQPPRFTKAE
YTAGVATDAK	VGSELIQVLA	LDADIGNNSL	VFYSILAIHY	FRALANDSED
VGQVFTMGSM	DGILRTFDLF	MAYSPGYFVV	DIVARDLAGH	NDTAIIGIYI
LRDDQRVKIV	INEIPDRVRG	FEEEFIHLLS	NITGAIVNTD	NVQFHVDKKG
RVNFAQTELL	IHVVNRDTNR	ILDVDRVIQM	IDENKEQLRN	LFRNYNVLDV
QPAISVRLPD	DMSALQMAII	VLAILLFLAA	MLFVLMNWYY	RTVHKRKLKA
IVAGSAGNRG	FIDIMDMPNT	NKYSFDGANP	VWLDPFCRNL	ELAAQAEHED
DLPENLSEIA	DLWNSPTRTH	GTFGREPAAV	KPDDDRYLRA	AIQEYDNIAK
LGQIIREGPI	KGSLLKVVLE	DYLRLKKLFA	QRMVQKASSC	HSSISELIQT
ELDEEPGDHS	PGQGSLRFRH	KPPVELKGPD	GIHVVHGSTG	TLLATDLNSL
PEEDQKGLGR	SLETLTAAEA	TAFERNARTE	SAKSTPLHKL	RDVIMETPLE
ITEL

Funkcija

Ovaj gen je član superporodice kadherina, gena koji kodiraju kalcij ovisnu adheziju ćelijskih glikoproteina. Protein kodiran ovim genom je veliki, jednoprolazni transmembranski protein sastavljen od vanćelijskog domena koji sadrži 27 ponavljanja saznačajnom homologijom kadherinskog ektodomina. Eksprimiran je u nervnosenzornom epitelu, a smatra se da je protein uključen u organizaciju stereocilija i formiranje snopa treplji. Konkretno, smatra se da je u interakciji s protokadherinom 15 u obliku niti vrh-link.^[9]

Klinički značaj

Gen se nalazi u regiji koja sadrži ljudske lokuse gluhoće DFNB12 i USH1D. Usherov sindrom 1D i nesindromska autosomno recesivna gluhoća DFNB12 uzrokovani su alelnim mutacijama ovog novog gena sličnog kadherinu.^[7]^[10] Gen je povezan s padom funkcije bubrega.^[11]

Interakcije

Pokazano je da CDH23 ima interakcije sa USH1C.^[12]^[13]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107736 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000012819 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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. S2CID 30614281.
^ 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.
^ ^a ^b EntrezGene 64072
^ "UniProt, Q9H251". Pristupljeno 31. 8. 2021.
^ 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. S2CID 4414814.
^ 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.
^ Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.
^ 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.
^ 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 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

Dopunska literatura

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 (4): 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. doi:10.1001/archotol.1989.01860290049013. 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.
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.
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.
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. S2CID 7284406.
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.
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.
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.
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. S2CID 24156599.
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 (2): 262–75. doi:10.1086/341558. PMC 379159. PMID 12075507.
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 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.
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 (februar 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. S2CID 310717.
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.

Vanjski linkovi

Lokacija ljudskog genoma CDH23 i stranica sa detaljima o genu CDH23 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107736 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000012819 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] 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. S2CID 30614281.

[pmid11090341-6] 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.

[entrez-7] EntrezGene 64072

[UniProt-8] "UniProt, Q9H251". Pristupljeno 31. 8. 2021.

[9] 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. S2CID 4414814.

[10] 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.

[11] Gorski M, Tin A, Garnaas M, et al. (2015). "Genome-wide association study of kidney function decline in individuals of European descent". Kidney Int. 87 (5): 1017–29. doi:10.1038/ki.2014.361. PMC 4425568. PMID 25493955.

[pmid12485990-12] 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.

[pmid12407180-13] 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 (23): 14946–51. doi:10.1073/pnas.232579599. PMC 137525. PMID 12407180.

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