2E8M205913860ENSG00000151491ENSMUSG00000015766Q12929Q08509NM_004447NM_001271587NM_001271588NM_001271589NM_001271595NM_007945NP_004438NP_001258516NP_001258517NP_001258518NP_001258524NP_031971Epidermal growth factor receptor kinase substrate 8 is an enzyme that in humans is encoded by the EPS8 gene.
Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling.
Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.
[6] Mutations in EPS8 cause congenital deafness.Behlouli A, Bonnet C, Abdi S, Bouaita A, Lelli A, Hardelin JP, Schietroma C, Rous Y, Louha M, Cheknane A, Lebdi H, Boudjelida K, Makrelouf M, Zenati A, Petit C (2014).
"EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness".