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CDH23 (англ. Cadherin related 23) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 10-ї хромосоми. Довжина поліпептидного ланцюга білка становить 3 354 амінокислот, а молекулярна маса — 369 494.
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| Ідентифікатори | |||||||||||||||||
| Символи | CDH23, CDHR23, USH1D, cadherin-related 23, cadherin related 23, PITA5 | ||||||||||||||||
| Зовнішні ІД | OMIM: 605516 MGI: 1890219 HomoloGene: 11142 GeneCards: CDH23 | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| біполярний афективний розлад, Usher syndrome type 1D, autosomal recessive nonsyndromic deafness 12, nonsyndromic deafness | |||||||||||||||||
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| Шаблон експресії | |||||||||||||||||
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| Більше даних | |||||||||||||||||
| Ортологи | |||||||||||||||||
| Види | Людина | Миша | |||||||||||||||
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| RefSeq (мРНК) |
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| RefSeq (білок) |
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| Локус (UCSC) | Хр. 10: 71.4 – 71.82 Mb | Хр. 10: 60.14 – 60.53 Mb | |||||||||||||||
| PubMed search | |||||||||||||||||
| Вікідані | |||||||||||||||||
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| 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 |
Задіяний у таких біологічних процесах, як клітинна адгезія, альтернативний сплайсинг. Білок має сайт для зв'язування з іонами металів, іоном кальцію. Локалізований у клітинній мембрані, мембрані.
Література
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
- 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 Res. 8: 85—95. PMID 11347906 DOI:10.1093/dnares/8.2.85
- Pan L., Yan J., Wu L., Zhang M. (2009). 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. PMID 19297620 DOI:10.1073/pnas.0901819106
- Miyagawa M., Nishio S.Y., Usami S. (2012). Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PLoS ONE. 7: E40366—E40366. PMID 22899989 DOI:10.1371/journal.pone.0040366
Примітки
- Захворювання, генетично пов'язані з CDH23 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:13733 (англ.) . Процитовано 8 вересня 2017.
- (англ.) . Архів оригіналу за 12 січня 2018. Процитовано 8 вересня 2017.
Див. також
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Вікіпедія, Українська, Україна, книга, книги, бібліотека, стаття, читати, завантажити, безкоштовно, безкоштовно завантажити, mp3, відео, mp4, 3gp, jpg, jpeg, gif, png, малюнок, музика, пісня, фільм, книга, гра, ігри, мобільний, телефон, android, ios, apple, мобільний телефон, samsung, iphone, xiomi, xiaomi, redmi, honor, oppo, nokia, sonya, mi, ПК, web, Інтернет
CDH23 angl Cadherin related 23 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 10 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 3 354 aminokislot a molekulyarna masa 369 494 CDH23Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB2KBR 2KBS 2LSRIdentifikatoriSimvoliCDH23 CDHR23 USH1D cadherin related 23 cadherin related 23 PITA5Zovnishni ID OMIM 605516 MGI 1890219 HomoloGene 11142 GeneCards CDH23Pov yazani genetichni zahvoryuvannyabipolyarnij afektivnij rozlad Usher syndrome type 1D autosomal recessive nonsyndromic deafness 12 nonsyndromic deafness Ontologiya genaMolekulyarna funkciya zv yazuvannya z ionom metalu calcium ion binding GO 0001948 GO 0016582 protein bindingKlitinna komponenta klitinna membrana membrana stereocilium integral component of membraneBiologichnij proces Vidchuttya rivnovagi ekvilibriocepciya calcium ion transport homophilic cell adhesion via plasma membrane adhesion molecules photoreceptor cell maintenance inner ear receptor cell stereocilium organization locomotory behavior zir sensory perception of light stimulus calcium dependent cell cell adhesion via plasma membrane cell adhesion molecules vidpovid na stimul regulation of cytosolic calcium ion concentration adgeziya klitin sluhDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez64072 22295Ensembl ENSG00000107736 ENSMUSG00000012819UniProt Q9H251 Q6P152 Q99PF4RefSeq mRNK NM 001171930 NM 001171931 NM 001171932 NM 001171933 NM 001171934NM 001171935 NM 001171936 NM 022124 NM 052836NM 001252635 NM 023370RefSeq bilok NP 001165401 NP 001165402 NP 001165403 NP 001165404 NP 001165405NP 001165406 NP 001165407 NP 071407 NP 443068 NP 001165401 1 NP 071407 4NP 001239564 NP 075859Lokus UCSC Hr 10 71 4 71 82 MbHr 10 60 14 60 53 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MGRHVATSCHVAWLLVLISGCWGQVNRLPFFTNHFFDTYLLISEDTPVGS SVTQLLAQDMDNDPLVFGVSGEEASRFFAVEPDTGVVWLRQPLDRETKSE FTVEFSVSDHQGVITRKVNIQVGDVNDNAPTFHNQPYSVRIPENTPVGTP IFIVNATDPDLGAGGSVLYSFQPPSQFFAIDSARGIVTVIRELDYETTQA YQLTVNATDQDKTRPLSTLANLAIIITDVQDMDPIFINLPYSTNIYEHSP PGTTVRIITAIDQDKGRPRGIGYTIVSGNTNSIFALDYISGVLTLNGLLD RENPLYSHGFILTVKGTELNDDRTPSDATVTTTFNILVIDINDNAPEFNS SEYSVAITELAQVGFALPLFIQVVDKDENLGLNSMFEVYLVGNNSHHFII SPTSVQGKADIRIRVAIPLDYETVDRYDFDLFANESVPDHVGYAKVKITL INENDNRPIFSQPLYNISLYENVTVGTSVLTVLATDNDAGTFGEVSYFFS DDPDRFSLDKDTGLIMLIARLDYELIQRFTLTIIARDGGGEETTGRVRIN VLDVNDNVPTFQKDAYVGALRENEPSVTQLVRLRATDEDSPPNNQITYSI VSASAFGSYFDISLYEGYGVISVSRPLDYEQISNGLIYLTVMAMDAGNPP LNSTVPVTIEVFDENDNPPTFSKPAYFVSVVENIMAGATVLFLNATDLDR SREYGQESIIYSLEGSTQFRINARSGEITTTSLLDRETKSEYILIVRAVD GGVGHNQKTGIATVNITLLDINDNHPTWKDAPYYINLVEMTPPDSDVTTV VAVDPDLGENGTLVYSIQPPNKFYSLNSTTGKIRTTHAMLDRENPDPHEA ELMRKIVVSVTDCGRPPLKATSSATVFVNLLDLNDNDPTFQNLPFVAEVL EGIPAGVSIYQVVAIDLDEGLNGLVSYRMPVGMPRMDFLINSSSGVVVTT TELDRERIAEYQLRVVASDAGTPTKSSTSTLTIHVLDVNDETPTFFPAVY NVSVSEDVPREFRVVWLNCTDNDVGLNAELSYFITGGNVDGKFSVGYRDA VVRTVVGLDRETTAAYMLILEAIDNGPVGKRHTGTATVFVTVLDVNDNRP IFLQSSYEASVPEDIPEGHSILQLKATDADEGEFGRVWYRILHGNHGNNF RIHVSNGLLMRGPRPLDRERNSSHVLIVEAYNHDLGPMRSSVRVIVYVED INDEAPVFTQQQYSRLGLRETAGIGTSVIVVQATDRDSGDGGLVNYRILS GAEGKFEIDESTGLIITVNYLDYETKTSYMMNVSATDQAPPFNQGFCSVY ITLLNELDEAVQFSNASYEAAILENLALGTEIVRVQAYSIDNLNQITYRF NAYTSTQAKALFKIDAITGVITVQGLVDREKGDFYTLTVVADDGGPKVDS TVKVYITVLDENDNSPRFDFTSDSAVSIPEDCPVGQRVATVKAWDPDAGS NGQVVFSLASGNIAGAFEIVTTNDSIGEVFVARPLDREELDHYILQVVAS DRGTPPRKKDHILQVTILDINDNPPVIESPFGYNVSVNENVGGGTAVVQV RATDRDIGINSVLSYYITEGNKDMAFRMDRISGEIATRPAPPDRERQSFY HLVATVEDEGTPTLSATTHVYVTIVDENDNAPMFQQPHYEVLLDEGPDTL NTSLITIQALDLDEGPNGTVTYAIVAGNIVNTFRIDRHMGVITAAKELDY EISHGRYTLIVTATDQCPILSHRLTSTTTVLVNVNDINDNVPTFPRDYEG PFEVTEGQPGPRVWTFLAHDRDSGPNGQVEYSIMDGDPLGEFVISPVEGV LRVRKDVELDRETIAFYNLTICARDRGMPPLSSTMLVGIRVLDINDNDPV LLNLPMNITISENSPVSSFVAHVLASDADSGCNARLTFNITAGNRERAFF INATTGIVTVNRPLDRERIPEYKLTISVKDNPENPRIARRDYDLLLIFLS DENDNHPLFTKSTYQAEVMENSPAGTPLTVLNGPILALDADQDIYAVVTY QLLGAQSGLFDINSSTGVVTVRSGVIIDREAFSPPILELLLLAEDIGLLN STAHLLITILDDNDNRPTFSPATLTVHLLENCPPGFSVLQVTATDEDSGL NGELVYRIEAGAQDRFLIHLVTGVIRVGNATIDREEQESYRLTVVATDRG TVPLSGTAIVTILIDDINDSRPEFLNPIQTVSVLESAEPGTVIANITAID HDLNPKLEYHIVGIVAKDDTDRLVPNQEDAFAVNINTGSVMVKSPMNREL VATYEVTLSVIDNASDLPERSVSVPNAKLTVNVLDVNDNTPQFKPFGITY YMERILEGATPGTTLIAVAAVDPDKGLNGLVTYTLLDLVPPGYVQLEDSS AGKVIANRTVDYEEVHWLNFTVRASDNGSPPRAAEIPVYLEIVDINDNNP IFDQPSYQEAVFEDVPVGTIILTVTATDADSGNFALIEYSLGDGESKFAI NPTTGDIYVLSSLDREKKDHYILTALAKDNPGDVASNRRENSVQVVIQVL DVNDCRPQFSKPQFSTSVYENEPAGTSVITMMATDQDEGPNGELTYSLEG PGVEAFHVDMDSGLVTTQRPLQSYEKFSLTVVATDGGEPPLWGTTMLLVE VIDVNDNRPVFVRPPNGTILHIREEIPLRSNVYEVYATDKDEGLNGAVRY SFLKTAGNRDWEFFIIDPISGLIQTAQRLDRESQAVYSLILVASDLGQPV PYETMQPLQVALEDIDDNEPLFVRPPKGSPQYQLLTVPEHSPRGTLVGNV TGAVDADEGPNAIVYYFIAAGNEEKNFHLQPDGCLLVLRDLDREREAIFS FIVKASSNRSWTPPRGPSPTLDLVADLTLQEVRVVLEDINDQPPRFTKAE YTAGVATDAKVGSELIQVLALDADIGNNSLVFYSILAIHYFRALANDSED VGQVFTMGSMDGILRTFDLFMAYSPGYFVVDIVARDLAGHNDTAIIGIYI LRDDQRVKIVINEIPDRVRGFEEEFIHLLSNITGAIVNTDNVQFHVDKKG RVNFAQTELLIHVVNRDTNRILDVDRVIQMIDENKEQLRNLFRNYNVLDV QPAISVRLPDDMSALQMAIIVLAILLFLAAMLFVLMNWYYRTVHKRKLKA IVAGSAGNRGFIDIMDMPNTNKYSFDGANPVWLDPFCRNLELAAQAEHED DLPENLSEIADLWNSPTRTHGTFGREPAAVKPDDDRYLRAAIQEYDNIAK LGQIIREGPIKGSLLKVVLEDYLRLKKLFAQRMVQKASSCHSSISELIQT ELDEEPGDHSPGQGSLRFRHKPPVELKGPDGIHVVHGSTGTLLATDLNSL PEEDQKGLGRSLETLTAAEATAFERNARTESAKSTPLHKLRDVIMETPLE ITEL A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Zadiyanij u takih biologichnih procesah yak klitinna adgeziya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom kalciyu Lokalizovanij u klitinnij membrani membrani LiteraturaThe status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 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 Res 8 85 95 PMID 11347906 DOI 10 1093 dnares 8 2 85 Pan L Yan J Wu L Zhang M 2009 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 PMID 19297620 DOI 10 1073 pnas 0901819106 Miyagawa M Nishio S Y Usami S 2012 Prevalence and clinical features of hearing loss patients with CDH23 mutations a large cohort study PLoS ONE 7 E40366 E40366 PMID 22899989 DOI 10 1371 journal pone 0040366PrimitkiZahvoryuvannya genetichno pov yazani z CDH23 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 13733 angl Procitovano 8 veresnya 2017 angl Arhiv originalu za 12 sichnya 2018 Procitovano 8 veresnya 2017 Div takozhHromosoma 10 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi