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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. Plays a role in ciliogenesis.
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Tissue specificity
Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.
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Involvement in 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.
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Sequence similarities
Belongs to the villin/gelsolin family.
Contains 6 gelsolin-like repeats.
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Post-translational
modifications
Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.
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Cellular localization
Cytoplasm > cytoskeleton and Secreted.
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Information by UniProt
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Database links
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Alternative names
- Actin depolymerizing factor antibody
- Actin-depolymerizing factor antibody
- ADF antibody
- AGEL antibody
- Brevin antibody
- DKFZp313L0718 antibody
- GELS_HUMAN antibody
- Gelsolin antibody
- Gsn antibody
see all