GSN

Gelsolin is a protein of leukocytes, platelets, and other cells. It severs actin filaments in the presence of submicromolar calcium, thereby solating cytoplasmic actin gels. A calcium-independent mechanism reverses the process.

A gelsolin variant with 23 more N-terminal amino acids is a plasma component probably involved in the clearance of actin, the most abundant human protein, from the circulation.

This protein may be unique in that it is made for both secretion and intracytoplasmic location.

Pathology

 Finnish type of hereditary amyloidosis (amyloidosis type 5 or amyloidosis V) (MIM.105120)

References

 de la Chapelle, A.; Kere, J.; Sack, G. H., Jr.; Tolvanen, R.; Maury, C. P. J. : Familial amyloidosis, Finnish type: G654-to-A mutation of the gelsolin gene in Finnish families and an unrelated American family. Genomics 13: 898-901, 1992. PubMed ID : 1322359

 de la Chapelle, A.; Tolvanen, R.; Boysen, G.; Santavy, J.; Bleeker-Wagemakers, L.; Maury, C. P. J.; Kere, J. : Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187. Nature Genet. 2: 157-160, 1992. PubMed ID : 1338910

 Ghiso, J.; Haltia, M.; Prelli, F.; Novello, J.; Frangione, B. :
Gelsolin variant (asn-187) in familial amyloidosis, Finnish type. Biochem. J. 272: 827-830, 1990. PubMed ID : 2176481

 Gorevic, P. D.; Munoz, P. C.; Gorgone, G.; Purcell, J. J., Jr.; Rodrigues, M.; Ghiso, J.; Levy, E.; Haltia, M.; Frangione, B. : Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II. New Eng. J. Med. 325: 1780-1785, 1991. PubMed ID : 1658654

 Haltia, M.; Ghiso, J.; Prelli, F.; Gallo, G.; Kiuru, S.; Somer, H.; Palo, J.; Frangione, B. : Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin. Am. J. Path. 136: 1223-1228, 1990. PubMed ID : 2162627

 Haltia, M.; Levy, E.; Meretoja, J.; Fernandez-Madrid, I.; Koivunen, O.; Frangione, B. : Gelsolin gene mutation—at codon 187—in familial amyloidosis, Finnish: DNA-diagnostic assay. Am. J. Med. Genet. 42: 357-359, 1992. PubMed ID : 1311149

 Hiltunen, T.; Kiuru, S.; Hongell, V.; Helio, T.; Palo, J.; Peltonen, L. :
Finnish type of familial amyloidosis: cosegregation of asp187-to-asn mutation of gelsolin with the disease in three large families. Am. J. Hum. Genet. 49: 522-528, 1991. PubMed ID : 1652889