DISEASES

Disease-gene associations mined from literature

Literature associating ESPN and Usher syndrome type 1

ESPN [ENSP00000367059]

Autosomal recessive deafness type 36 protein; 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; Ankyrin repeat domain containing

Synonyms:  ESPN,  B1AK53,  K7EMB7,  Q5JYL1,  B1AK53p ...

Linkouts:  STRING  Pharos  UniProt  OMIM