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DFNB31 is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.
Gene Name: | Deafness, autosomal recessive 31 |
Synonyms: | WHRN, CIP98, DFNB31, KIAA1526, RP11-9M16.1, WI, USH2D, CASK-interacting protein CIP98, Whirlin |
Target Sequences: | Q9P202 Q9P202 |
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