功能： disease:Defects in WHRN are the cause of non-syndromic sensorineural deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. DFNB31 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 WHRN are the cause of Usher syndrome type 2D (USH2D) [MIM:611383]. 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.,function:Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.,online information:Gene page,similarity:Contains 1 PDZ (DHR) domain.,similarity:Contains 3 PDZ (DHR) domains.,subcellular location:Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Co-localizes with the growing ends of actin filaments.,subunit:Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Cell projection, stereocilium . Cell projection, growth cone . Photoreceptor inner segment . Cell junction, synapse . Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex. .
功能： disease:Defects in WHRN are the cause of non-syndromic sensorineural deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. DFNB31 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 WHRN are the cause of Usher syndrome type 2D (USH2D) [MIM:611383]. 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.,function:Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.,online information:Gene page,similarity:Contains 1 PDZ (DHR) domain.,similarity:Contains 3 PDZ (DHR) domains.,subcellular location:Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Co-localizes with the growing ends of actin filaments.,subunit:Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is necessary for localization of WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm . Cell projection, stereocilium . Cell projection, growth cone . Photoreceptor inner segment . Cell junction, synapse . Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex. .
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