Gene Symbol | EPS15 |
Entrez Gene ID | 2060 |
Full Name | epidermal growth factor receptor pathway substrate 15 |
Synonyms | AF-1P,AF1P,MLLT5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, May 2009]. |
Disorder MIM: |