Recombinant Human Espin (ESPN), Truncated

Uniprot Id

B1AK53

Target Species

Human

Target Name

ESPN

Target Full Name

Espin

Target Function

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.

Target Involvement

Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36)

Target Subcellular Location

Cytoplasm, cytoskeleton. Cell projection, stereocilium. Cell projection, microvillus.

Target Synonyms

ESPN; DFNB36; LP2654Espin; Autosomal recessive deafness type 36 protein; Ectoplasmic specialization protein

Target Background

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.