Species Human Entrez 2059 | Human Mouse Ensembl ENSG00000151491 | |
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Aliases EPS8, DFNB102, epidermal growth factor receptor pathway substrate 8 External IDs MGI: 104684 HomoloGene: 3272 GeneCards: EPS8 | ||
Epidermal growth factor receptor kinase substrate 8 is an enzyme that in humans is encoded by the EPS8 gene.
Contents
Function
This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. 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.
Clinical significance
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". Orphanet Journal of Rare Diseases. 9 (1): 55. doi:10.1186/1750-1172-9-55. PMC 4022326. PMID 24741995.
Interactions
EPS8 has been shown to interact with: