Automated description from the Alliance of Genome Resources (Release 6.0.0)
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).
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