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 and Dfnb36 Nonsyndromic Hearing Loss And Deafness. 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, dimensions, dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in variouS mechanosensory and chemosensory cells (By similarity).