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Overview
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Gene Accession: NP001972
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Background
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. EPS15 (Epidermal Growth Factor Receptor Pathway Substrate 15) is a Protein Coding gene. Diseases associated with EPS15 include Vaccinia. Among its related pathways are Notch signaling pathway (KEGG) and HIV Life Cycle. GO annotations related to this gene include calcium ion binding and SH3 domain binding. An important paralog of this gene is EPS15L1.
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