ESPN Antibody – Rabbit Polyclonal

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]

ESPN: Multifunctional actin-bundling protein. 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. Defects in ESPN are the cause of deafness autosomal recessive type 36 with or without vestibular involvement (DFNB36). A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Actin-binding; Cytoskeletal

Chromosomal Location of Human Ortholog: 1p36.31

Cellular Component: filamentous actin; stereocilium; cytoplasm; stereocilium bundle tip; brush border

Molecular Function: actin filament binding; SH3 domain binding

Biological Process: positive regulation of filopodium formation; parallel actin filament bundle formation; sensory perception of sound; locomotory behavior; negative regulation of cytoskeleton organization and biogenesis

Disease: Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement