1IUR, 3O102627850720ENSG00000151835ENSMUSG00000048279Q9NZJ4Q9JLC8NM_001278055NM_014363NM_152752NM_015788NM_172809NP_001264984NP_055178NP_766397NP_056603Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the SACS gene.

[8] The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas.

Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy.

[6] Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a very rare neurodegenerative genetic disorder that results from mutations in the gene that produces Sacsin.

[9] This article incorporates text from the United States National Library of Medicine, which is in the public domain.