USH1C Rabbit pAb

Predicted to enable actin filament binding activity. Acts upstream of or within neuron development, startle response, and synapse organization. Predicted to be part of stereocilia ankle link complex. Predicted to be active in several cellular components, including cilium, photoreceptor inner segment, and stereocilium tip. Is expressed in brain, hair cell, pleuroperitoneal region, sensory system, and trunk musculature. Used to study Usher syndrome. Human ortholog(s) of this gene implicated in Usher syndrome, Usher syndrome type 1, Usher syndrome type 1C, and autosomal recessive nonsyndromic deafness 18A. Orthologous to human USH1C (USH1 protein network component harmonin).