Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables identical protein binding activity. Involved in several processes, including detection of mechanical stimulus involved in sensory perception of sound; nervous system development; and paranodal junction maintenance. Acts upstream of or within several processes, including auditory receptor cell stereocilium organization; positive regulation of gene expression; and sensory perception of sound. Located in several cellular components, including cytoskeleton; periciliary membrane compartment; and stereocilium tip. Part of USH2 complex and stereocilia ankle link complex. Is expressed in several structures, including central nervous system; cervical intervertebral disc; forelimb bud; sensory organ; and thymus. Used to study Usher syndrome type 2D and autosomal recessive nonsyndromic deafness 31. Human ortholog(s) of this gene implicated in Usher syndrome type 2D; autosomal recessive nonsyndromic deafness 31; and sensorineural hearing loss. Orthologous to human WHRN (whirlin).
This site uses cookies.
Some cookies are essential for site operations and others help us analyze use and utility of our web site.
Please refer to our
privacy policy
for more information.