功能： alternative products:Additional isoforms seem to exist,disease:Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:601067]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.,disease:Defects in CDH23 are the cause of non-syndromic sensorineural deafness autosomal recessive type 12 (DFNB12) [MIM:601386]. DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,disease:Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:601067]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.,function:Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. Cadherin 23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development.,online information:Retina International's Scientific Newsletter,similarity:Contains 27 cadherin domains.,tissue specificity:Particularly strong expression in the retina. Found also in the cochlea.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein .
组织表达： Particularly strong expression in the retina (PubMed:11138009). Found also in the cochlea.
功能： alternative products:Additional isoforms seem to exist,disease:Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:601067]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.,disease:Defects in CDH23 are the cause of non-syndromic sensorineural deafness autosomal recessive type 12 (DFNB12) [MIM:601386]. DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,disease:Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:601067]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.,function:Cadherins are calcium dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. Cadherin 23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development.,online information:Retina International's Scientific Newsletter,similarity:Contains 27 cadherin domains.,tissue specificity:Particularly strong expression in the retina. Found also in the cochlea.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein .
组织表达： Particularly strong expression in the retina (PubMed:11138009). Found also in the cochlea.
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