人 EPS15L1 抗体对
01AB02177
Epidermal growth factor receptor pathway substrate 15 like 1 (EPS15L1) is a ubiquitously expressed endocytic adaptor protein that localizes to the plasma membrane and clathrin-coated pits. It functions as a constitutive component of the endocytic machinery, where it is required for the receptor-mediated internalization of various cargoes, including the transferrin receptor and integrin beta1. By facilitating vesicle-mediated transport and endosomal maturation, EPS15L1 links membrane trafficking to cell adhesion and downstream signaling pathways. Clinically, pathogenic variants in EPS15L1 are associated with limb malformation phenotypes, specifically isolated split hand-split foot malformation. These associations underscore the critical role of EPS15L1-mediated endocytic and adhesion processes in embryonic morphogenesis and skeletal patterning.
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技术参数
- 靶点基因名
- EPS15L1
- 基因别名
- EPS15R
- 蛋白别名
- epidermal growth factor receptor pathway substrate 15 like 1; EPS15L1
- UniProt
- Q9UBC2
- 物种
- Human
产品详情
- 靶点名称
- EPS15L1
- 蛋白名称
- epidermal growth factor receptor pathway substrate 15 like 1
- 蛋白别名
- Epidermal growth factor receptor substrate 15-like 1; Eps15-related protein; Eps15R
- 靶点基因名
- EPS15L1
- 基因别名
- EPS15R
- UniProt
- Q9UBC2
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Epidermal growth factor receptor pathway substrate 15 like 1 (EPS15L1) is a ubiquitously expressed endocytic adaptor protein that localizes to the plasma membrane and clathrin-coated pits. It functions as a constitutive component of the endocytic machinery, where it is required for the receptor-mediated internalization of various cargoes, including the transferrin receptor and integrin beta1. By facilitating vesicle-mediated transport and endosomal maturation, EPS15L1 links membrane trafficking to cell adhesion and downstream signaling pathways. Clinically, pathogenic variants in EPS15L1 are associated with limb malformation phenotypes, specifically isolated split hand-split foot malformation. These associations underscore the critical role of EPS15L1-mediated endocytic and adhesion processes in embryonic morphogenesis and skeletal patterning.