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From Proteopedia
Solution structure of the first PDZ domain of human KIAA1526 protein
Structural highlights
DiseaseWHRN_HUMAN Defects in DFNB31 are the cause of 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.[1] [2] [3] Defects in DFNB31 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. FunctionWHRN_HUMAN Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (By similarity). Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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Categories: Homo sapiens | Large Structures | Inoue M | Kigawa T | Koshiba S | Li H | Muto Y | Yokoyama S
