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 of this gene results in multiple transcript variants encoding different isoforms.
Autosomal recessive deafness type 31 protein; CASK-interacting protein CIP98; deafness, autosomal recessive 31; Whirlin
Searching for an antibody we don't offer? We make custom antibodies for specific targets, species and applications.
More than 18,000 custom antibodies created so far.Talk to a specialist now