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GSN gene

Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

GSN gene

The GSN gene provides instructions for making the protein gelsolin, which regulates the structure and movement of cells by managing actin filaments.

Normal Function

The GSN gene provides instructions for making two forms of a protein called gelsolin: one that remains inside the cell (cellular gelsolin) and one that is released from the cell (secreted gelsolin). Both forms attach (bind) to a protein called actin. Actin proteins are organized into filaments that form the cytoskeleton, which gives structure to cells and allows them to change shape and move. Gelsolin helps assemble or disassemble these actin filaments, thereby regulating the formation of the actin cytoskeleton.

Health Conditions Related to Genetic Changes

Lattice corneal dystrophy type II

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, including the cornea, skin, and nerves. These clumps contain the gelsolin protein.

Mutations causing this condition change a single amino acid in the gelsolin protein at position 187, replacing aspartic acid with either asparagine (Asp187Asn) or tyrosine (Asp187Tyr). While this change occurs in both cellular and secreted forms, only the secreted form is involved in the amyloid deposits. The altered gelsolin protein is broken down abnormally, resulting in protein fragments that are released from the cell and accumulate as amyloid. These deposits lead to symptoms such as vision impairment, paralysis of facial muscles, and thick, sagging skin.

Other Names for This Gene

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

Frequently Asked Questions

Patients may report gradual clouding or haziness of the cornea, especially in the central visual axis, along with occasional eye pain or redness. Systemic signs such as facial muscle weakness, skin thickening, or peripheral neuropathy may also be present, prompting a referral to a geneticist or ophthalmologist. How is a GSN mutation diagnosed, and what does the test entail?::A genetic test typically involves a blood sample that is analyzed for the two common pathogenic variants (Asp187Asn or Asp187Tyr). The test can be ordered by a primary care provider or ophthalmologist and usually takes 2–3 weeks for results. What are the current treatment options for the corneal amyloid deposits caused by GSN mutations?::Corneal transplantation (penetrating keratoplasty or deep anterior lamellar keratoplasty) is the most effective way to restore vision. In early stages, laser ablation or phototherapeutic keratectomy may remove superficial deposits. Patients should also use lubricating eye drops and avoid eye trauma to reduce further deposition. Can patients with GSN mutations take preventive measures to slow the progression of their eye disease?::Regular ophthalmologic check‑ups every 6–12 months are recommended. Patients should avoid contact lens wear if it causes irritation, use protective eyewear during activities that risk eye injury, and maintain good overall health to support ocular surface integrity. Discussing the possibility of enrolling in clinical trials for novel therapies may also be beneficial.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.