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  • Molecular assay reagents intended to identify mutations in the sacsin (SACS) gene, located at chromosome 13q12, which encodes for a protein found in the brain, skin cells, skeletal muscle, and pancreas that may function in chaperone-mediated protein folding, but its exact function is unknown. These inherited genetic mutations have been identified in patients with spastic ataxia of Charlevoix-Saguenay (ARSACS).
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