Gene Symbol | EPS8 |
Entrez Gene ID | 2059 |
Full Name | epidermal growth factor receptor pathway substrate 8 |
Synonyms | DFNB102 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | ?Deafness, autosomal recessive 102, 615974 (3) |