EPS8L2
Function
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).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the EPS8 family.
Tissue Specificity
Detected in fibroblasts and placenta.
Cellular localization
- Cytoplasm
- Cell projection
- Stereocilium
- Localizes at the tips of the stereocilia of the inner and outer hair cells.
Alternative names
EPS8R2, PP13181, EPS8L2, Epidermal growth factor receptor kinase substrate 8-like protein 2, EPS8-like protein 2, Epidermal growth factor receptor pathway substrate 8-related protein 2, EPS8-related protein 2