信号通路： Fc gamma R-mediated phagocytosis;Regulates Actin and Cytoskeleton;
功能： disease:Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:105120]; also known as familial amyloidosis Finnish type. AMYL5 is a hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.,function:Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed.,online information:Gelsolin entry,PTM:Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.,similarity:Belongs to the villin/gelsolin family.,similarity:Contains 6 gelsolin-like repeats.,subunit:Binds to actin and to fibronectin.,tissue specificity:Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.,
信号通路： Fc gamma R-mediated phagocytosis;Regulates Actin and Cytoskeleton;
功能： disease:Defects in GSN are the cause of amyloidosis type 5 (AMYL5) [MIM:105120]; also known as familial amyloidosis Finnish type. AMYL5 is a hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.,function:Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed.,online information:Gelsolin entry,PTM:Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.,similarity:Belongs to the villin/gelsolin family.,similarity:Contains 6 gelsolin-like repeats.,subunit:Binds to actin and to fibronectin.,tissue specificity:Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.,
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