Sacsin

Sacsin is a protein that in humans is encoded by the SACS gene. This protein is primarily associated with Sacs syndrome, also known as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a condition characterized by early-onset muscle weakness and coordination problems.

Function

Sacsin is a large protein that is believed to have a role in the mitochondria, the energy-producing centers within cells. It is also thought to be involved in the maintenance of the cytoskeleton, a network of fibers that make up the cell's structural framework.

Clinical significance

Mutations in the SACS gene are associated with Sacs syndrome. These mutations often lead to the production of an abnormally short, nonfunctional version of sacsin. Without functional sacsin, cells are less able to maintain their cytoskeleton and mitochondria, leading to the cell death that occurs in Sacs syndrome.

See also

• Sacs syndrome
• Protein
• Gene
• Mitochondria
• Cytoskeleton