DefinitionThis section has been translated automatically.
The GSN gene (GSN stands for Gelsolin) is a protein-coding gene located on chromosome 9q33.2.
The protein encoded by this gene, Gelsolin, binds to the "plus" (or barbed) ends of actin monomers and filaments to prevent monomer exchange (end-blocking or capping). The protein, which is regulated by calcium, can promote the assembly of monomers into filaments (nucleation) and separate already formed filaments (Nag S et al. 2009). Several transcript variants have been found for this gene, encoding several different isoforms.
Defects in this gene are a cause of familial amyloidosis of the Finnish type (AGel amyloidosis/FAF). The signaling pathways involved include the innate immune system and apoptotic cleavage of cellular proteins.
LiteratureThis section has been translated automatically.
- Kim J et al. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length. Nature 464:1048-1051.
- Nag S et al (2009) Ca2+ binding by domain 2 plays a critical role in the activation and stabilization of gelsolin. Proc Natl Acad Sci U S A. 106:13713-13718.
