Gelsolin ist ein Gen, das durch das Symbol GSN kodiert wird. Im Allgemeinen auch bezeichnet als: AGEL; Actin-depolymerizing factor; ADF; Brevin; GSN. Gelsolin hat eine Masse von 85.7kDa, eine Aminosäurelänge von 782, und ist an Amyloidosis 5 beteiligt.
Wir bieten 11 antikörper gegen Gelsolin, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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. Plays a role in ciliogenesis.
Entrez Zusammenfassung
The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene.
Gewebespezifität
Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.
Rolle bei Krankheiten
Amyloidosis 5: 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.
Sequenzähnlichkeiten
Belongs to the villin/gelsolin family.
Posttranslationale Modifikation
Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.
Zellort
Cytoplasm > Cytoskeleton.
