| Modification Notes |
Eps8L3 (epidermal growth factor receptor kinase substrate 8-like protein 3), also known as EPS8R3, is a 593 amino acid protein that is related to Eps8, a novel EGF receptor substrate. Eps8L3 is a cytoplasmic protein that is part of a complex that contains Sos 1, Abi-1 and Eps8L2. Eps8L3 contains one SH3 domain, and has been found to interact with Abi-1 and FAS-L. Eps8L3 is expressed as three isoforms produced by alternative splicing and is encoded by a gene mapping to human chromosome 1. Human chromosome 1 spans 260 million base pairs, contains over 3,000 genes, comprises nearly 8% of the human genome and houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. |