Gene Symbol | WHRN |
Entrez Gene ID | 25861 |
Full Name | whirlin |
Synonyms | CIP98,DFNB31,PDZD7B,USH2D,WI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene 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 results in multiple transcript variants. [provided by RefSeq, Nov 2016]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 31, 607084 (3); Usher syndrome, type 2D, 611383 (3) |