免疫原
Synthesized peptide derived from human K1737 AA range: 141-191
特异性
This antibody detects endogenous levels of K1737 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008],
功能
disease:Defects in CD2AP are the cause of susceptibility to focal segmental glomerulosclerosis 3 (FSGS3) [MIM:607832]. FSGS3 is a common renal lesion characterized by increased urinary protein excretion and decreasing kidney function. Renal insufficiency often progresses to end-stage renal failure, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS is defined by the presence of segmental sclerosis in glomeruli, and is seen in all ethnic groups, although it is particularly common in individuals of African descent. FSGS occurs as an isolated primary condition or secondary to disorders as HIV infection, obesity, hypertension and diabetes. FSGS may also be inherited as a mendelian trait.,domain:Potential homodimerization is mediated by the coiled coil domain.,domain:The Pro-rich domain may mediate binding to SH3 domains.,function:Seems to act as an adapte
