Rabbit anti-Human WHRN Polyclonal Antibody

Uniprot Id

Q9P202

Target Species

Human

Target Name

WHRN

Target Full Name

Whirlin

Target Function

Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.

Target Involvement

Deafness, autosomal recessive, 31 (DFNB31); Usher syndrome 2D (USH2D)

Target Subcellular Location

Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Photoreceptor inner segment. Cell junction, synapse.

Target Synonyms

1110035G07Rik; Autosomal recessive deafness type 31 protein; CASK interacting protein CIP98; CIP 98; CIP98; Deafness autosomal recessive 31; DFNB 31; DKFZp434N014; KIAA1526; RP11 9M16.1; USH 2D; USH2D; Whirlin; WHRN; WHRN_HUMAN; WI

Target Background

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.