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Genetics Home Reference: your guide to understanding genetic conditions
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GSN

Reviewed April 2012

What is the official name of the GSN gene?

The official name of this gene is “gelsolin.”

GSN is the gene's official symbol. The GSN gene is also known by other names, listed below.

What is the normal function of the GSN gene?

The GSN gene provides instructions for making two forms of a protein called gelsolin. One form remains inside the cell (cellular gelsolin) and the other form is released from the cell (secreted gelsolin). Both forms of the gelsolin protein attach (bind) to another protein called actin. Actin proteins are organized into filaments, which form a network (the cytoskeleton) that gives structure to cells and allows them to change shape and move. Gelsolin helps assemble or disassemble actin filaments. It is thought that, through this function, the gelsolin protein regulates the formation of the actin cytoskeleton.

How are changes in the GSN gene related to health conditions?

lattice corneal dystrophy type II - caused by mutations in the GSN gene

At least two mutations in the GSN gene cause lattice corneal dystrophy type II. This condition is characterized by the accumulation of protein clumps called amyloid deposits in many tissues throughout the body, including the clear, outer covering of the eye (the cornea); the skin; and the nerves. These protein clumps contain the gelsolin protein.

GSN gene mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein: the amino acid aspartic acid at position 187. The most common mutation replaces the aspartic acid with the amino acid asparagine (written as Asp187Asn or D187N). Another mutation replaces the aspartic acid with the amino acid tyrosine (written as Asp187Tyr or D187Y).

The amino acid change is found in both the cellular and secreted forms of the gelsolin protein. However, only the secreted form of the protein is involved in the amyloid deposits. The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. These protein fragments accumulate and form amyloid deposits. Amyloid deposits in the eyes, skin, and nerves lead to the signs and symptoms of lattice corneal dystrophy type II, such as vision impairment; paralysis of facial muscles; and thick, sagging skin.

Where is the GSN gene located?

Cytogenetic Location: 9q33

Molecular Location on chromosome 9: base pairs 121,268,101 to 121,332,843

The GSN gene is located on the long (q) arm of chromosome 9 at position 33.

The GSN gene is located on the long (q) arm of chromosome 9 at position 33.

More precisely, the GSN gene is located from base pair 121,268,101 to base pair 121,332,843 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about GSN?

You and your healthcare professional may find the following resources about GSN helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GSN gene or gene products?

  • actin-depolymerizing factor
  • ADF
  • AGEL
  • brevin
  • DKFZp313L0718
  • GELS_HUMAN
  • gelsolin isoform a precursor
  • gelsolin isoform b
  • gelsolin isoform c

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding GSN?

actin ; amino acid ; amyloid ; asparagine ; aspartic acid ; cell ; cornea ; cytoskeleton ; gene ; mutation ; precursor ; protein ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: GELSOLIN (http://omim.org/entry/137350)
  • Janmey PA, Chaponnier C, Lind SE, Zaner KS, Stossel TP, Yin HL. Interactions of gelsolin and gelsolin-actin complexes with actin. Effects of calcium on actin nucleation, filament severing, and end blocking. Biochemistry. 1985 Jul 2;24(14):3714-23. (http://www.ncbi.nlm.nih.gov/pubmed/2994715?dopt=Abstract)
  • Kangas H, Paunio T, Kalkkinen N, Jalanko A, Peltonen L. In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis. Hum Mol Genet. 1996 Sep;5(9):1237-43. (http://www.ncbi.nlm.nih.gov/pubmed/8872462?dopt=Abstract)
  • Kwiatkowski DJ, Mehl R, Yin HL. Genomic organization and biosynthesis of secreted and cytoplasmic forms of gelsolin. J Cell Biol. 1988 Feb;106(2):375-84. (http://www.ncbi.nlm.nih.gov/pubmed/2828382?dopt=Abstract)
  • Levy E, Haltia M, Fernandez-Madrid I, Koivunen O, Ghiso J, Prelli F, Frangione B. Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med. 1990 Dec 1;172(6):1865-7. (http://www.ncbi.nlm.nih.gov/pubmed/2175344?dopt=Abstract)
  • Maury CP, Liljeström M, Boysen G, Törnroth T, de la Chapelle A, Nurmiaho-Lassila EL. Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type). J Clin Pathol. 2000 Feb;53(2):95-9. (http://www.ncbi.nlm.nih.gov/pubmed/10767822?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2934)
  • Paunio T, Kangas H, Kalkkinen N, Haltia M, Palo J, Peltonen L. Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment. Hum Mol Genet. 1994 Dec;3(12):2223-9. (http://www.ncbi.nlm.nih.gov/pubmed/7881424?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2012
Published: December 16, 2014