Predicted to enable SH3 domain binding activity and actin filament binding activity. Involved in microvillar actin bundle assembly. Located in microvillus and stereocilium. Implicated in autosomal recessive nonsyndromic deafness 36.
RGD Description
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]