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MIM.137350 9q34

Tuesday 5 February 2008

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.


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


- 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