Gelsolin

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The GSN gene at 9q33.2 codes for the 782 amino acid protein gelsolin. This is a calcium-regulated, actin-modulating protein that binds to the barbed (plus) ends of actin filaments, preventing monomer exchange by end-blocking (capping). Gelsolin also promotes the assembly of actin monomers into filaments (nucleation). It plays a role in ciliogenesis.

Abnormal variants cause AGel amyloidosis. This is suggested by the presence of:

The amyloidosis often causes peripheral neuropathy or CNS manifestations. A typical presentation of the cranial neuropathy phenotype might be involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy such has been reported with the p.D214Y mutation[1] but other diverse presentations such as with ataxia are possible. Severe systemic disease can develop with amyloid cardiomyopathy, and nephrotic syndrome. The renal involvement appears confined to the p.G194R and p.N211K mutations. The other described mutation causing amyloidosis is p.D214N[2].

Some polymorphisms are associated with risk of malignancy[3]

References

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