抗人 EPS8L1 抗体对
01AB02405
EPS8 signaling adaptor L1 (EPS8L1) is a cytoplasmic adaptor protein that modulates Ras signaling and actin cytoskeleton remodeling. As a member of the EPS8 family, it stimulates the guanine nucleotide exchange activity of SOS1, facilitating membrane ruffling and structural changes. EPS8L1 is involved in the maintenance of epidermal and hair follicle barrier structures. Clinically, variants in the EPS8L1 gene are associated with Fetal Akinesia Deformation Sequence 4, a severe congenital neuromuscular disorder. It has also been linked to villous adenocarcinoma and pathways relevant to Fragile X syndrome. These associations underscore the importance of EPS8L1 in developmental signaling and its potential role in tumorigenesis through the regulation of cytoskeletal dynamics.
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技术参数
- 靶点基因名
- EPS8L1
- 基因别名
- DRC3; EPS8R1
- 蛋白别名
- EPS8 signaling adaptor L1; EPS8L1
- UniProt
- Q8TE68
- 物种
- Human
产品详情
- 靶点名称
- EPS8L1
- 蛋白名称
- EPS8 signaling adaptor L1
- 蛋白别名
- Epidermal growth factor receptor kinase substrate 8-like protein 1; EPS8-like protein 1; Epidermal growth factor receptor pathway substrate 8-related protein 1; EPS8-related protein 1
- 靶点基因名
- EPS8L1
- 基因别名
- DRC3; EPS8R1
- UniProt
- Q8TE68
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
EPS8 signaling adaptor L1 (EPS8L1) is a cytoplasmic adaptor protein that modulates Ras signaling and actin cytoskeleton remodeling. As a member of the EPS8 family, it stimulates the guanine nucleotide exchange activity of SOS1, facilitating membrane ruffling and structural changes. EPS8L1 is involved in the maintenance of epidermal and hair follicle barrier structures. Clinically, variants in the EPS8L1 gene are associated with Fetal Akinesia Deformation Sequence 4, a severe congenital neuromuscular disorder. It has also been linked to villous adenocarcinoma and pathways relevant to Fragile X syndrome. These associations underscore the importance of EPS8L1 in developmental signaling and its potential role in tumorigenesis through the regulation of cytoskeletal dynamics.