The SACS gene provides instructions for producing a protein called sacsin. Sacsin is found in the brain, skin cells, muscles used for movement (skeletal muscles), and at low levels in the pancreas, but the specific function of the protein is unknown. Research suggests that sacsin plays a role in organizing proteins into bundles called intermediate filaments. Intermediate filaments provide support and strength to cells. In nerve cells (neurons), specialized intermediate filaments called neurofilaments comprise the structural framework that establishes the size and shape of nerve cell extensions called axons, which are essential for transmission of nerve impulses to other neurons and to muscle cells.
Other Names
ARSACS; DNAJC29; KIAA0730; PPP1R138; SACS_HUMAN; sacsin; spastic ataxia of Charlevoix-Saguenay (sacsin); SPAX6
Related Genetics Topics
Identifiers
- NCBI Gene: 26278
- OMIM: 604490
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
