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