人 CD2AP 抗体对
01AB00178
CD2 associated protein (CD2AP) is a scaffolding molecule that regulates the actin cytoskeleton by directly interacting with filamentous actin and various cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region. It localizes to membrane ruffles, lipid rafts, and the leading edges of cells, playing a crucial role in dynamic actin remodeling and membrane trafficking during receptor endocytosis and cytokinesis. Haploinsufficiency of the CD2AP gene is implicated in susceptibility to glomerular disease, particularly focal segmental glomerulosclerosis (FSGS), where it links nephrin and podocin to phosphoinositide 3-OH kinase in the slit diaphragm of podocytes. This complex has cell-signaling properties and is essential for maintaining the integrity of the glomerular ultrafiltration barrier. Mutations in CD2AP have been associated with congenital nephrotic syndromes and increased susceptibility to renal disease.
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技术参数
- 靶点基因名
- CD2AP
- 蛋白别名
- CD2 associated protein; CD2AP
- UniProt
- Q9Y5K6
- 物种
- Human
产品详情
- 靶点名称
- CD2AP
- 蛋白名称
- CD2 associated protein
- 蛋白别名
- CD2-associated protein; Adapter protein CMS; Cas ligand with multiple SH3 domains
- 靶点基因名
- CD2AP
- UniProt
- Q9Y5K6
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
CD2 associated protein (CD2AP) is a scaffolding molecule that regulates the actin cytoskeleton by directly interacting with filamentous actin and various cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region. It localizes to membrane ruffles, lipid rafts, and the leading edges of cells, playing a crucial role in dynamic actin remodeling and membrane trafficking during receptor endocytosis and cytokinesis. Haploinsufficiency of the CD2AP gene is implicated in susceptibility to glomerular disease, particularly focal segmental glomerulosclerosis (FSGS), where it links nephrin and podocin to phosphoinositide 3-OH kinase in the slit diaphragm of podocytes. This complex has cell-signaling properties and is essential for maintaining the integrity of the glomerular ultrafiltration barrier. Mutations in CD2AP have been associated with congenital nephrotic syndromes and increased susceptibility to renal disease.