EPS8L2

This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq]

Full Name

EPS8-like 2

Research Area

Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity).

Biological Process

Positive regulation of ruffle assembly Source: UniProtKB
Regulation of catalytic activity Source: GOC
Regulation of Rho protein signal transduction Source: UniProtKB
Rho protein signal transduction Source: UniProtKB
Sensory perception of sound Source: UniProtKB

Cellular Location

Cytoplasm; Stereocilium. Localizes at the tips of the stereocilia of the inner and outer hair cells.

Involvement in disease

Deafness, autosomal recessive, 106 (DFNB106):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.