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Center for Nephrology and Metabolic Disorders
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Gelsolin

The GSN gene encodes a calcium regulated protein that is involved in actin filament metabolism. Mutations cause autosomal dominant amyloidosis of Finnish type.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Finnish type Amyloidosis
GSN

References:

1.

Kwiatkowski DJ et al. (1988) Localization of gelsolin proximal to ABL on chromosome 9.

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2.

Gorevic PD et al. (1991) Amyloidosis due to a mutation of the gelsolin gene in an American family with lattice corneal dystrophy type II.

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3.

None (1991) Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides.

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4.

None (1991) Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragment of variant gelsolin.

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5.

Kim J et al. (2010) Functional genomic screen for modulators of ciliogenesis and cilium length.

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6.

Levy E et al. (1990) Mutation in gelsolin gene in Finnish hereditary amyloidosis.

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7.

Ghiso J et al. (1990) Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.

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8.

Maury CP et al. (1990) Isolation and characterization of cardiac amyloid in familial amyloid polyneuropathy type IV (Finnish): relation of the amyloid protein to variant gelsolin.

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9.

Kwiatkowski DJ et al. (1989) The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.

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10.

Haltia M et al. (1992) Gelsolin gene mutationat codon 187in familial amyloidosis, Finnish: DNA-diagnostic assay.

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11.

Kwiatkowski DJ et al. () Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain.

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12.

Paunio T et al. (1995) Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.

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13.

Witke W et al. (1995) Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin.

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14.

Steiner RD et al. (1995) Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

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15.

Paunio T et al. (1994) Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.

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16.

Vasconcellos CA et al. (1994) Reduction in viscosity of cystic fibrosis sputum in vitro by gelsolin.

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17.

Sunada Y et al. (1993) Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family.

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18.

Kamada S et al. (1998) A cloning method for caspase substrates that uses the yeast two-hybrid system: cloning of the antiapoptotic gene gelsolin.

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19.

de la Chapelle A et al. (1992) Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

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20.

Sipilä K et al. (2002) Database for the mutations of the Finnish disease heritage.

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21.

Paunio T et al. (1992) Solid-phase minisequencing test reveals Asp187--Asn (G654--A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

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22.

de la Chapelle A et al. (1992) Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

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23.

Maury CP et al. (1990) Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline.

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24.

Haltia M et al. (1990) Amyloid in familial amyloidosis, Finnish type, is antigenically and structurally related to gelsolin.

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25.

Maury CP et al. (1990) Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

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26.

None (1973) Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.

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27.

Purcell JJ et al. (1983) Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome).

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28.

Sack GH et al. (1981) Three forms of dominant amyloid neuropathy.

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29.

None (1993) Homozygous familial amyloidosis, Finnish type: demonstration of glomerular gelsolin-derived amyloid and non-amyloid tubular gelsolin.

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30.

Kazmirski SL et al. (2000) Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2.

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31.

Kazmirski SL et al. (2002) Loss of a metal-binding site in gelsolin leads to familial amyloidosis-Finnish type.

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32.

Lee WM et al. (1992) The extracellular actin-scavenger system and actin toxicity.

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33.

Pilz A et al. (1992) Comparative mapping of mouse chromosome 2 and human chromosome 9q: the genes for gelsolin and dopamine beta-hydroxylase map to mouse chromosome 2.

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34.

Maury CP et al. (1992) Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.

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35.

Hiltunen T et al. (1991) Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

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36.

Orphanet article

Orphanet ID 122296 external link
37.

NCBI article

NCBI 2934 external link
38.

OMIM.ORG article

Omim 137350 external link
39.

Wikipedia article

Wikipedia EN (Gelsolin) external link
Update: Aug. 14, 2020
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