Aliases for ESPN Gene
External Ids for ESPN Gene
Previous HGNC Symbols for ESPN Gene
Previous GeneCards Identifiers for ESPN Gene
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]
GeneCards Summary for ESPN Gene
ESPN (Espin) is a Protein Coding gene. Diseases associated with ESPN include Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (GO) annotations related to this gene include actin binding and SH3 domain binding. An important paralog of this gene is ESPNL.
UniProtKB/Swiss-Prot for ESPN Gene
Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.