Espin, also known asautosomal recessive deafness type 36 protein orectoplasmic specialization protein, is aprotein that in humans is encoded by theESPNgene.[5] Espin is amicrofilament binding protein.
Espin is 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.[5]
Mutations in this gene are associated with autosomal recessive neurosensory deafness, autosomal dominant sensorineural deafness without vestibular involvement, andDFNB36.[5]
Boulouiz R, Li Y, Soualhine H, et al. (2008). "A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family".Am. J. Med. Genet. A.146A (23):3086–9.doi:10.1002/ajmg.a.32525.PMID18973245.S2CID33443367.
Bartles JR, Wierda A, Zheng L (1996). "Identification and characterization of espin, an actin-binding protein localized to the F-actin-rich junctional plaques of Sertoli cell ectoplasmic specializations".J. Cell Sci.109 (6):1229–39.doi:10.1242/jcs.109.6.1229.PMID8799813.
