EPS15
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Epidermal growth factor receptor substrate 15 is a protein that in humans is encoded by the EPS15 gene.[5]
External IDsOMIM: 600051; MGI: 104583; HomoloGene: 128359; GeneCards: EPS15; OMA:EPS15 - orthologs
Function
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clathrin-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. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.[6]